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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:Hyperlipoproteinemia Type II
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Accession:DOID:9005519 term browser browse the term
Definition:A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins).
Synonyms:exact_synonym: Autosomal Dominant Hypercholesterolemia;   Essential Hypercholesterolemia;   Essential Hypercholesterolemias;   Familial Combined Hyperlipoproteinemia;   Familial Combined Hyperlipoproteinemias;   Hyper Low Density Lipoproteinemia;   Hyper beta Lipoproteinemia;   Hyper-Low Density Lipoproteinemias;   Hyper-beta-Lipoproteinemias;   Hyperbetalipoproteinemia;   Hyperbetalipoproteinemias;   Hypercholesterolemia, Autosomal Dominant, Type B;   Hyperlipoproteinemia Type 2;   Hyperlipoproteinemia Type IIa;   Hyperlipoproteinemia Type IIb;   LDL Receptor Disorder;   LDL Receptor Disorders;   autosomal dominant hypercholesterolemias;   type II Hyperlipoproteinemias;   type IIa hyperlipoproteinemias
 broad_synonym: APOB-RELATED DISORDER
 primary_id: MESH:D006938
 alt_id: OMIM:144010
 xref: NCI:C123416
For additional species annotation, visit the Alliance of Genome Resources.


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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_004955419:21,553,863...21,681,626
Ensembl chrNW_004955419:21,553,835...21,681,619
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO DNA:polymorphism: :p.Q27E RGD PMID:17020471 RGD:1601121 NCBI chrNW_004955415:5,515,157...5,517,198
Ensembl chrNW_004955415:5,515,697...5,516,980
JBrowse link
G Apoa1 apolipoprotein A1 ISO DNA:polymorphism:promoter:-75G>A (human) RGD PMID:9699897 RGD:1601186 NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298
JBrowse link
G Apoa2 apolipoprotein A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12522687 NCBI chrNW_004955468:12,977,956...12,979,282
Ensembl chrNW_004955468:12,977,956...12,979,753
JBrowse link
G Apoa4 apolipoprotein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chrNW_004955412:18,158,095...18,160,636
Ensembl chrNW_004955412:18,155,801...18,160,701
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_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424
JBrowse link
G Apoc3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chrNW_004955412:18,165,667...18,168,015
Ensembl chrNW_004955412:18,165,667...18,168,015
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888
JBrowse link
G Ghr growth hormone receptor ISO ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia ClinVar PMID:7565946 PMID:8504296 PMID:12910492 PMID:17462934 PMID:25741868 More... NCBI chrNW_004955426:26,553,509...26,873,619
Ensembl chrNW_004955426:26,689,581...26,871,684
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745
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: Hyperlipoproteinemia Type II
ClinVar PMID:1139254 PMID:1301940 PMID:1301956 PMID:1319734 PMID:1352322 More... NCBI chrNW_004955495:2,114,702...2,135,584
Ensembl chrNW_004955495:2,114,434...2,138,056
JBrowse link
G Lipc lipase C, hepatic type ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chrNW_004955450:15,947,869...16,062,449
Ensembl chrNW_004955450:15,948,187...16,048,766
JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chrNW_004955403:43,646,084...43,672,116
Ensembl chrNW_004955403:43,646,084...43,673,967
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:16280123 RGD:1642031 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Mttp microsomal triglyceride transfer protein ISO RGD PMID:17215532 RGD:1625482 NCBI chrNW_004955496:7,963,323...8,022,393
Ensembl chrNW_004955496:7,963,262...8,009,838
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:15654334 PMID:15772090 PMID:16424354 PMID:16554528 PMID:16571601 More... RGD:1581001 NCBI chrNW_004955464:4,424,583...4,439,805
Ensembl chrNW_004955464:4,425,435...4,439,842
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 PMID:16238680 NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
JBrowse link
G Pon2 paraoxonase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chrNW_004955432:11,988,009...12,020,702
Ensembl chrNW_004955432:11,987,919...12,020,740
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 chrNW_004955452:5,323,345...5,336,589
Ensembl chrNW_004955452:5,325,426...5,336,833
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 chrNW_004955439:21,098,751...21,111,906 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_004955452:5,649,069...5,682,264
Ensembl chrNW_004955452:5,649,069...5,682,366
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_004955452:5,624,334...5,634,861
Ensembl chrNW_004955452:5,624,306...5,634,923
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_004955452:5,720,756...5,747,259
Ensembl chrNW_004955452:5,720,930...5,747,230
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_004955452:5,811,053...5,844,992
Ensembl chrNW_004955452:5,811,053...5,845,580
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_004955452:5,490,801...5,506,178
Ensembl chrNW_004955452:5,473,343...5,505,163
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_004955452:5,603,203...5,605,815
Ensembl chrNW_004955452:5,603,203...5,605,815
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_004955452:5,081,919...5,102,349
Ensembl chrNW_004955452:5,081,556...5,095,182
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_004955452:5,793,583...5,808,662
Ensembl chrNW_004955452:5,793,583...5,808,662
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_004955452:5,147,247...5,281,229
Ensembl chrNW_004955452:5,146,633...5,279,136
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_004955452:5,312,944...5,324,193
Ensembl chrNW_004955452:5,314,252...5,324,193
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_004955452:5,440,766...5,474,483
Ensembl chrNW_004955452:5,440,341...5,475,105
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_004955452:5,338,224...5,342,793
Ensembl chrNW_004955452:5,339,195...5,340,232
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_004955452:5,571,433...5,577,801
Ensembl chrNW_004955452:5,570,022...5,577,801
JBrowse link
G Selenon selenoprotein N ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004955452:5,295,716...5,311,113
Ensembl chrNW_004955452:5,296,035...5,309,102
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_004955452:5,683,276...5,684,760
Ensembl chrNW_004955452:5,683,276...5,684,760
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_004955452:5,507,614...5,515,669
Ensembl chrNW_004955452:5,504,022...5,516,246
JBrowse link
G Stmn1 stathmin 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004955452:5,387,696...5,393,337
Ensembl chrNW_004955452:5,388,150...5,391,518
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_004955452:5,517,969...5,531,490
Ensembl chrNW_004955452:5,520,269...5,531,975
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_004955452:5,685,416...5,708,993
Ensembl chrNW_004955452:5,682,794...5,705,701
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_004955452:5,613,210...5,614,161
Ensembl chrNW_004955452:5,613,210...5,614,161
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_004955452:5,748,569...5,758,389
Ensembl chrNW_004955452:5,748,639...5,754,911
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_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888
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_004955419:21,553,863...21,681,626
Ensembl chrNW_004955419:21,553,835...21,681,619
JBrowse link
G Apoa2 apolipoprotein A2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 OMIM
ClinVar
PMID:12522687 NCBI chrNW_004955468:12,977,956...12,979,282
Ensembl chrNW_004955468:12,977,956...12,979,753
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_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424
JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:29166645 RGD:150520219 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888
JBrowse link
G Carm1 coactivator associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chrNW_004955495:1,983,599...2,002,174
Ensembl chrNW_004955495:1,983,599...2,002,174
JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chrNW_004955495:1,860,644...1,934,589
Ensembl chrNW_004955495:1,860,644...1,934,818
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_004955495:2,174,802...2,216,424
Ensembl chrNW_004955495:2,174,966...2,216,423
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_004955403:49,999,563...50,038,800
Ensembl chrNW_004955403:49,999,563...50,041,572
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:12910492 PMID:17462934 PMID:25741868 More... NCBI chrNW_004955426:26,553,509...26,873,619
Ensembl chrNW_004955426:26,689,581...26,871,684
JBrowse link
G Gk glycerol kinase ISO RGD PMID:10642898 RGD:13702898 NCBI chrNW_004955531:106,761...183,347 JBrowse link
G Ldlr low density lipoprotein receptor ISO 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: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
OMIM
ClinVar
PMID:200368 PMID:1057090 PMID:1073562 PMID:1139254 PMID:1301940 More... NCBI chrNW_004955495:2,114,702...2,135,584
Ensembl chrNW_004955495:2,114,434...2,138,056
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_004955452:5,081,919...5,102,349
Ensembl chrNW_004955452:5,081,556...5,095,182
JBrowse link
G LOC102014685 chromosome unknown open reading frame, human C19orf38 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chrNW_004955495:1,945,560...1,956,990
Ensembl chrNW_004955495:1,945,560...1,956,990
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 chrNW_004955464:4,424,583...4,439,805
Ensembl chrNW_004955464:4,425,435...4,439,842
JBrowse link
G Pon2 paraoxonase 2 ISO DNA:missense mutation:cds:p.S311C (human) RGD PMID:16776623 RGD:1642625 NCBI chrNW_004955432:11,988,009...12,020,702
Ensembl chrNW_004955432:11,987,919...12,020,740
JBrowse link
G Ppp1r17 protein phosphatase 1 regulatory subunit 17 ISO OMIM NCBI chrNW_004955410:32,720,954...32,737,676
Ensembl chrNW_004955410:32,720,889...32,737,695
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:serum: RGD PMID:19004443 RGD:13207334 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
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_004955495:2,021,671...2,105,155
Ensembl chrNW_004955495:2,021,566...2,105,397
JBrowse link
G Stap1 signal transducing adaptor family member 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:26036859 NCBI chrNW_004955447:5,292,708...5,345,214
Ensembl chrNW_004955447:5,293,227...5,330,187
JBrowse link
G Timm29 translocase of inner mitochondrial membrane 29 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chrNW_004955495:2,005,929...2,007,238
Ensembl chrNW_004955495:2,006,011...2,006,876
JBrowse link
G Tmed1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chrNW_004955495:1,934,920...1,938,208
Ensembl chrNW_004955495:1,934,920...1,938,208
JBrowse link
G Yipf2 Yip1 domain family member 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chrNW_004955495:2,001,458...2,005,880
Ensembl chrNW_004955495:1,997,720...2,006,264
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_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424
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_004955403:43,646,084...43,672,116
Ensembl chrNW_004955403:43,646,084...43,673,967
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_004955413:30,306,563...30,366,245
Ensembl chrNW_004955413:30,307,219...30,359,500
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_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424
JBrowse link
G Bsnd barttin CLCNK type accessory beta subunit ISO ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 ClinVar PMID:28492532 NCBI chrNW_004955464:4,459,686...4,468,749
Ensembl chrNW_004955464:4,459,628...4,468,927
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 chrNW_004955464:4,424,583...4,439,805
Ensembl chrNW_004955464:4,425,435...4,439,842
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13435
    Nutritional and Metabolic Diseases 5306
      disease of metabolism 5306
        lipid metabolism disorder 904
          familial hyperlipidemia 191
            Hyperlipoproteinemias 61
              Hyperlipoproteinemia Type II 56
                Familial Hyperbeta- and Prebetalipoproteinemia 1
                High Serum Cholesterol, Familial 0
                Hyperapobetalipoproteinemia 2
                Hyperlipoproteinemia Type II, and Deafness 0
                familial hypercholesterolemia + 45
Path 2
Term Annotations click to browse term
  disease 13435
    Developmental Disease 10994
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9917
        genetic disease 9506
          inherited metabolic disorder 3687
            lipid metabolism disorder 904
              Dyslipidemias 216
                familial hyperlipidemia 191
                  Hyperlipoproteinemias 61
                    Hyperlipoproteinemia Type II 56
                      Familial Hyperbeta- and Prebetalipoproteinemia 1
                      High Serum Cholesterol, Familial 0
                      Hyperapobetalipoproteinemia 2
                      Hyperlipoproteinemia Type II, and Deafness 0
                      familial hypercholesterolemia + 45
paths to the root