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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 chr11:111,659,186...111,661,790
Ensembl chr11:115,591,788...115,594,382
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 chr11:111,625,403...111,627,932
Ensembl chr11:115,559,231...115,562,286
JBrowse link
G APOC2 apolipoprotein C2 susceptibility ISO DNA:missense mutation: :p.L72P (human)
protein:increased expression:serum
RGD PMID:1468157 PMID:16153625 RGD:1601204 RGD:1601208 NCBI chr19:41,892,954...41,896,461 JBrowse link
G APOC3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2022742 NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460
JBrowse link
G APOH apolipoprotein H ISO RGD PMID:6613192 RGD:2313992 NCBI chr17:60,154,389...60,171,762
Ensembl chr17:65,365,250...65,382,483
JBrowse link
G CETP cholesteryl ester transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:2215607 PMID:8408659 NCBI chr16:37,239,756...37,261,859
Ensembl chr16:56,374,363...56,396,103
JBrowse link
G HNF1A HNF1 homeobox A susceptibility ISO DNA:polymorphism:cd: p.I27L (human) RGD PMID:12788852 RGD:329901805 NCBI chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911
JBrowse link
G LIPC lipase C, hepatic type ISO CTD Direct Evidence: marker/mechanism
associated with Nephrosis; protein:decreased expression:plasma (rat)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human)
associated with Obesity and Diabetes; DNA:transition:promoter:-514C>T (human)
CTD
RGD
PMID:6480830 PMID:11427226 PMID:15941898 PMID:18160998 RGD:2308798 RGD:2308829 RGD:2308834 NCBI chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005
JBrowse link
G PON1 paraoxonase 1 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:11015468 PMID:15324535 RGD:731237 RGD:8547684 NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:10828087 Ensembl chr22:45,218,364...45,302,970 JBrowse link
G SERPINF2 serpin family F member 2 ISO RGD PMID:6121140 RGD:1625537 NCBI chr17:1,725,469...1,738,887
Ensembl chr17:1,618,549...1,631,570
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 | ClinVar Annotator: match by term: Hyperalphalipoproteinemia 2 OMIM
ClinVar
PMID:2022742 PMID:11060345 PMID:19074352 PMID:20097930 PMID:23701270 More... NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460
JBrowse link
autosomal recessive hypercholesterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AUNIP aurora kinase A and ninein interacting protein ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:25,090,690...25,118,062
Ensembl chr 1:26,157,953...26,185,578
JBrowse link
G CATSPER4 cation channel sperm associated 4 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:25,451,655...25,464,069
Ensembl chr 1:26,518,287...26,531,263
JBrowse link
G CD52 CD52 molecule ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:25,578,073...25,581,442
Ensembl chr 1:26,647,260...26,649,876
JBrowse link
G CEP85 centrosomal protein 85 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:25,495,228...25,539,857
Ensembl chr 1:26,562,744...26,607,852
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 chr 1:25,438,092...25,450,953
Ensembl chr 1:26,505,513...26,517,225
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 chr 1:25,582,532...25,615,411
Ensembl chr 1:26,651,324...26,675,481
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 chr 1:25,696,229...25,735,319
Ensembl chr 1:26,760,535...26,799,049
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 chr 1:25,280,371...25,295,083
Ensembl chr 1:26,346,391...26,361,118
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 chr 1:25,420,411...25,424,036 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 chr 1:24,809,535...24,852,394
Ensembl chr 1:25,878,358...25,903,336
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 chr 1:25,674,751...25,693,684
Ensembl chr 1:26,739,268...26,758,028
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 chr 1:24,877,014...25,044,891
Ensembl chr 1:25,943,949...26,110,456
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 chr 1:25,078,463...25,091,546
Ensembl chr 1:26,145,924...26,158,980
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 chr 1:25,218,632...25,256,751
Ensembl chr 1:26,284,649...26,323,031
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 chr 1:25,119,805...25,134,395
Ensembl chr 1:26,188,822...26,189,862
Ensembl chr 1:26,188,822...26,189,862
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 chr 1:25,372,456...25,386,811
Ensembl chr 1:26,439,485...26,453,376
JBrowse link
G SELENON selenoprotein N ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:25,058,907...25,076,817
Ensembl chr 1:26,127,125...26,141,745
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 chr 1:25,540,781...25,542,558 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 chr 1:25,296,643...25,304,751
Ensembl chr 1:26,359,575...26,370,803
JBrowse link
G STMN1 stathmin 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:25,159,241...25,165,535
Ensembl chr 1:26,208,731...26,230,925
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 chr 1:25,309,949...25,373,658
Ensembl chr 1:26,378,373...26,392,041
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 chr 1:25,543,314...25,567,655
Ensembl chr 1:26,608,439...26,636,016
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 chr 1:25,430,971...25,431,964
Ensembl chr 1:26,497,845...26,498,847
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 chr 1:25,622,548...25,636,106
Ensembl chr 1:26,690,359...26,703,755
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 beta disease | ClinVar Annotator: match by term: Broad-betalipoproteinemia ClinVar PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 More... NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
cholesterol-ester transfer protein deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CETP cholesteryl ester transfer protein ISO ClinVar Annotator: match by term: CETP DEFICIENCY ClinVar PMID:14559957 PMID:17190939 PMID:20068209 PMID:25741868 PMID:28492532 NCBI chr16:37,239,756...37,261,859
Ensembl chr16:56,374,363...56,396,103
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:21478160 PMID:21816778 More... NCBI chr 8:139,960,255...139,964,189
Ensembl chr 8:142,980,151...142,985,429
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:3745433 PMID:6300187 PMID:7735921 More... NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
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 chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188
JBrowse link
G APOA2 apolipoprotein A2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:12522687 NCBI chr 1:136,634,754...136,636,122
Ensembl chr 1:140,546,591...140,547,959
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 Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
ClinVar PMID:221546 PMID:1360085 PMID:1424233 PMID:1454832 PMID:1466657 More... NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129
JBrowse link
G APOE apolipoprotein E ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
G C19H19orf38 chromosome 19 C19orf38 homolog ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr19:10,390,158...10,423,117
Ensembl chr19:11,123,539...11,142,641
JBrowse link
G CARM1 coactivator associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr19:10,424,993...10,476,702
Ensembl chr19:11,144,733...11,195,948
JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr19:10,272,172...10,386,032
Ensembl chr19:10,933,672...11,106,478
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 chr19:10,747,850...10,811,483
Ensembl chr19:11,459,062...11,513,220
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 chr 8:26,761,090...26,818,436
Ensembl chr 8:23,964,094...24,017,749
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
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
OMIM
ClinVar
PMID:7565946 PMID:8504296 PMID:9360502 PMID:11502828 PMID:12910492 More... NCBI chr 5:67,654,326...67,953,140
Ensembl chr 5:72,700,150...72,871,278
JBrowse link
G GK glycerol kinase ISO RGD PMID:10642898 RGD:13702898 NCBI chr  X:23,250,290...23,327,373
Ensembl chr  X:30,806,950...30,877,131
JBrowse link
G LDLR low density lipoprotein receptor 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 Annotator: match by term: LDL RECEPTOR DISORDER
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
OMIM
ClinVar
PMID:200368 PMID:1057090 PMID:1073562 PMID:1139254 PMID:1301940 More... NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791
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:9536098 PMID:11326085 PMID:12016260 PMID:12464675 More... NCBI chr 1:24,809,535...24,852,394
Ensembl chr 1:25,878,358...25,903,336
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:12175777 PMID:12730697 More... NCBI chr 1:54,323,036...54,355,397
Ensembl chr 1:55,911,016...55,936,456
JBrowse link
G PON2 paraoxonase 2 ISO DNA:missense mutation:cds:p.S311C (human) RGD PMID:16776623 RGD:1642625 NCBI chr 7:87,362,447...87,392,795
Ensembl chr 7:100,950,074...100,980,433
JBrowse link
G PPP1R17 protein phosphatase 1 regulatory subunit 17 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 7:32,296,330...32,317,606
Ensembl chr 7:32,413,485...32,434,886
JBrowse link
G RBP4 retinol binding protein 4 disease_progression ISO associated with myocardial infarction; protein:decreased expression:blood serum (human) RGD PMID:24720534 RGD:329845858 NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887
JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:serum: RGD PMID:19004443 RGD:13207334 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
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 chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952
JBrowse link
G STAP1 signal transducing adaptor family member 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:26036859 NCBI chr 4:56,442,773...56,491,148
Ensembl chr 4:62,836,288...62,882,570
JBrowse link
G TIMM29 translocase of inner mitochondrial membrane 29 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr19:10,482,351...10,483,890 JBrowse link
G TMED1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:28492532 NCBI chr19:10,386,041...10,389,905
Ensembl chr19:11,107,511...11,111,744
JBrowse link
G YIPF2 Yip1 domain family member 2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:28492532 NCBI chr19:10,475,806...10,482,352
Ensembl chr19:11,195,562...11,203,248
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: APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B ClinVar PMID:1360085 PMID:1466657 PMID:1493642 PMID:1600334 PMID:1770316 More... NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129
JBrowse link
G LDLR low density lipoprotein receptor ISO ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B ClinVar PMID:7616128 PMID:7709162 PMID:9039985 PMID:9259195 PMID:9654205 More... NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791
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 chr 8:19,164,541...19,193,100
Ensembl chr 8:16,113,415...16,142,966
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 chr11:111,625,403...111,627,932
Ensembl chr11:115,559,231...115,562,286
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 chr19:41,892,954...41,896,461 JBrowse link
G LPL lipoprotein lipase ISO ClinVar Annotator: match by term: Familial Lipoprotein Lipase Deficiency | 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 chr 8:19,164,541...19,193,100
Ensembl chr 8:16,113,415...16,142,966
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:3745433 PMID:6300187 PMID:7735921 More... NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
hyperalphalipoproteinemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CETP cholesteryl ester transfer protein ISO ClinVar Annotator: match by term: Hyperalphalipoproteinemia 1 OMIM
ClinVar
PMID:2215607 PMID:2390095 PMID:2586614 PMID:6738363 PMID:7605382 More... NCBI chr16:37,239,756...37,261,859
Ensembl chr16:56,374,363...56,396,103
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 chr 8:19,164,541...19,193,100
Ensembl chr 8:16,113,415...16,142,966
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO ClinVar Annotator: match by term: Hyperapobetalipoproteinemia, susceptibility to ClinVar PMID:10828087 PMID:12006394 PMID:15309680 Ensembl chr22:45,218,364...45,302,970 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 chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129
JBrowse link
G BSND barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 ClinVar PMID:28492532 PMID:30269829 NCBI chr 1:54,281,736...54,292,159
Ensembl chr 1:55,869,495...55,879,674
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:12175777 More... NCBI chr 1:54,323,036...54,355,397
Ensembl chr 1:55,911,016...55,936,456
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:3745433 PMID:6300187 PMID:7735921 More... NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
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 chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188
JBrowse link
G ADRB2 adrenoceptor beta 2 ISO DNA:polymorphism: :p.Q27E RGD PMID:17020471 RGD:1601121 NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892
JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:87,858,602...87,881,348
Ensembl chr 1:122,912,417...122,934,476
JBrowse link
G APOA1 apolipoprotein A1 ISO DNA:polymorphism:promoter:-75G>A (human) RGD PMID:9699897 RGD:1601186 NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
JBrowse link
G APOA2 apolipoprotein A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12522687 NCBI chr 1:136,634,754...136,636,122
Ensembl chr 1:140,546,591...140,547,959
JBrowse link
G APOA4 apolipoprotein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr11:111,659,186...111,661,790
Ensembl chr11:115,591,788...115,594,382
JBrowse link
G APOB apolipoprotein B ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | 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 Annotator: match by term: Hyperlipoproteinemia type 2
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 Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2
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 | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2
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 Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2
ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | 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 Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2
OMIM
ClinVar
PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1454832 More... NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129
JBrowse link
G APOC3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460
JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
G CETP cholesteryl ester transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr16:37,239,756...37,261,859
Ensembl chr16:56,374,363...56,396,103
JBrowse link
G GHR growth hormone receptor ISO ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia ClinVar PMID:7565946 PMID:8504296 PMID:9360502 PMID:11502828 PMID:12910492 More... NCBI chr 5:67,654,326...67,953,140
Ensembl chr 5:72,700,150...72,871,278
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chr 5:39,936,630...39,961,519
Ensembl chr 5:40,548,919...40,573,785
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 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 Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2
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 Annotator: match by term: Hyperlipoproteinemia Type IIb
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II
ClinVar PMID:200368 PMID:1057090 PMID:1139254 PMID:1301940 PMID:1301956 More... NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791
JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:24,809,535...24,852,394
Ensembl chr 1:25,878,358...25,903,336
JBrowse link
G LIPC lipase C, hepatic type ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005
JBrowse link
G LPL lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 8:19,164,541...19,193,100
Ensembl chr 8:16,113,415...16,142,966
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:16280123 RGD:1642031 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G MTTP microsomal triglyceride transfer protein ISO RGD PMID:17215532 RGD:1625482 NCBI chr 4:91,987,756...92,047,127
Ensembl chr 4:102,648,793...102,708,107
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 | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B
RGD
ClinVar
PMID:11668641 PMID:12175777 PMID:12730697 PMID:14727156 PMID:15358785 More... RGD:1581001 NCBI chr 1:54,323,036...54,355,397
Ensembl chr 1:55,911,016...55,936,456
JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 PMID:16238680 NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
JBrowse link
G PON2 paraoxonase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 7:87,362,447...87,392,795
Ensembl chr 7:100,950,074...100,980,433
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 chr11:111,625,403...111,627,932
Ensembl chr11:115,559,231...115,562,286
JBrowse link
G APOC3 apolipoprotein C3 ISO RGD PMID:2879788 RGD:1578447 NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460
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
OMIM
PMID:1356443 PMID:1360898 PMID:1361196 PMID:1713245 PMID:2101409 More... NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
G LDLR low density lipoprotein receptor ISO ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia ClinVar PMID:20809525 PMID:25741868 PMID:28492532 PMID:28645073 PMID:33740630 NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791
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 chr11:111,625,403...111,627,932
Ensembl chr11:115,559,231...115,562,286
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 susceptibility ISO ClinVar Annotator: match by term: Familial type 5 hyperlipoproteinemia ClinVar
OMIM
PMID:12417524 PMID:12417525 PMID:16200213 PMID:16806135 PMID:18324930 More... NCBI chr11:111,625,403...111,627,932
Ensembl chr11:115,559,231...115,562,286
JBrowse link
primary hypoalphalipoproteinemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: APOA1-related condition | ClinVar Annotator: match by term: Apolipoprotein A-I deficiency | ClinVar Annotator: match by term: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2 | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2, intermediate OMIM
ClinVar
PMID:1901417 PMID:2108924 PMID:2123470 PMID:2506176 PMID:2512329 More... NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
JBrowse link
G APOA4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chr11:111,659,186...111,661,790
Ensembl chr11:115,591,788...115,594,382
JBrowse link
G APOC3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17943
    Nutritional and Metabolic Diseases 7155
      disease of metabolism 7155
        lipid metabolism disorder 1545
          familial hyperlipidemia 249
            Hyperlipoproteinemias 66
              Hyperlipoproteinemia Type II + 60
              Lipoprotein Types--Lp System Lp(A) Hyperlipoproteinemia 0
              cholesterol-ester transfer protein deficiency + 4
              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 17943
    Developmental Disease 17830
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17746
        genetic disease 17730
          inherited metabolic disorder 5511
            lipid metabolism disorder 1545
              Dyslipidemias 279
                familial hyperlipidemia 249
                  Hyperlipoproteinemias 66
                    Hyperlipoproteinemia Type II + 60
                    Lipoprotein Types--Lp System Lp(A) Hyperlipoproteinemia 0
                    cholesterol-ester transfer protein deficiency + 4
                    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