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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
For additional species annotation, visit the Alliance of Genome Resources.



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Hyperlipoproteinemias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO GAD PMID:15118671 RGD:1331525 NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:blood plasma (human) RGD PMID:226830 RGD:5685673 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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 chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
JBrowse link
G Apoc2 apolipoprotein C2 susceptibility ISO protein:increased expression:serum
DNA:missense mutation: :p.L72P (human)
RGD PMID:1468157 PMID:16153625 RGD:1601208, RGD:1601204 NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
JBrowse link
G Apoc3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2022742 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
JBrowse link
G Apoh apolipoprotein H ISO RGD PMID:6613192 RGD:2313992 NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
JBrowse link
G Lipc lipase C, hepatic type IDA
ISO
associated with Nephrosis; protein:decreased expression:plasma (rat)
CTD Direct Evidence: marker/mechanism
associated with Obesity and Diabetes; DNA:transition:promoter:-514C>T (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human)
CTD
RGD
PMID:18160998 PMID:6480830 PMID:15941898 PMID:11427226 RGD:2308798, RGD:2308829, RGD:2308834 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
JBrowse link
G Pon1 paraoxonase 1 treatment IDA
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15324535 PMID:11015468 PMID:15324535 RGD:731237, RGD:8547684 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:10828087 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
JBrowse link
G Serpinf2 serpin family F member 2 ISO RGD PMID:6121140 RGD:1625537 NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243
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: Hyperalphalipoproteinemia 2
ClinVar Annotator: match by OMIM:614028
OMIM
ClinVar
PMID:2022742 PMID:19074352 PMID:24941081 PMID:24941082 PMID:25962519 More... NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,722,157...146,736,233
Ensembl chr 5:146,722,337...146,736,501
JBrowse link
G Catsper4 cation channel, sperm associated 4 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,427,682...146,447,346
Ensembl chr 5:146,427,683...146,446,942
JBrowse link
G Cd52 CD52 molecule ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,319,789...146,321,348
Ensembl chr 5:146,319,969...146,321,348
JBrowse link
G Cep85 centrosomal protein 85 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,356,575...146,404,155
Ensembl chr 5:146,356,576...146,404,060
JBrowse link
G Cnksr1 connector enhancer of kinase suppressor of Ras 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,447,495...146,458,332
Ensembl chr 5:146,447,497...146,458,212
JBrowse link
G Crybg2 crystallin beta-gamma domain containing 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,286,406...146,318,417
Ensembl chr 5:146,286,925...146,323,666
JBrowse link
G Dhdds dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,198,359...146,224,479
Ensembl chr 5:146,197,457...146,224,454
JBrowse link
G Extl1 exostosin-like glycosyltransferase 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,573,911...146,589,115
Ensembl chr 5:146,573,912...146,589,115
JBrowse link
G Fam110d family with sequence similarity 110, member D ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,471,048...146,474,019
Ensembl chr 5:146,471,049...146,474,056
JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 4
ClinVar Annotator: match by term: Hypercholesterolemia, autosomal recessive
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:603813
OMIM
ClinVar
PMID:4351242 PMID:7628519 PMID:11326085 PMID:11897284 PMID:12016260 More... NCBI chr 5:146,955,607...146,978,601
Ensembl chr 5:146,955,607...146,978,601
JBrowse link
G Lin28a lin-28 homolog A ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,227,119...146,244,122
Ensembl chr 5:146,227,119...146,244,122
JBrowse link
G Man1c1 mannosidase, alpha, class 1C, member 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,774,282...146,913,257
Ensembl chr 5:146,775,842...146,913,421
JBrowse link
G Mtfr1l mitochondrial fission regulator 1-like ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,736,927...146,746,891
Ensembl chr 5:146,736,927...146,746,784
JBrowse link
G Pafah2 platelet-activating factor acetylhydrolase 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,607,050...146,636,203
Ensembl chr 5:146,613,498...146,634,943
JBrowse link
G Paqr7 progestin and adipoQ receptor family member 7 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,709,085...146,720,577
Ensembl chr 5:146,708,900...146,720,673
JBrowse link
G Pdik1l PDLIM1 interacting kinase 1 like ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,495,115...146,507,363
Ensembl chr 5:146,495,115...146,506,835
JBrowse link
G Selenon selenoprotein N ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,748,638...146,764,656
Ensembl chr 5:146,748,652...146,763,059
JBrowse link
G Sh3bgrl3 SH3 domain binding glutamate-rich protein like 3 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,354,152...146,355,525
Ensembl chr 5:146,354,152...146,355,331
JBrowse link
G Slc30a2 solute carrier family 30 member 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,559,733...146,571,957
Ensembl chr 5:146,559,733...146,571,956
JBrowse link
G Stmn1 stathmin 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,680,757...146,687,154
Ensembl chr 5:146,681,436...146,687,154
JBrowse link
G Trim63 tripartite motif containing 63 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322
JBrowse link
G Ubxn11 UBX domain protein 11 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,329,666...146,353,529
Ensembl chr 5:146,329,842...146,353,526
JBrowse link
G Zfp593 zinc finger protein 593 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,462,670...146,464,998
Ensembl chr 5:146,462,670...146,465,198
JBrowse link
G Zfp683 zinc finger protein 683 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,277,972...146,285,856
Ensembl chr 5:146,278,978...146,285,000
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 PMID:2992507 PMID:3243553 PMID:6300187 PMID:9649566 PMID:16103896 More... NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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 ID ClinVar
OMIM
PMID:19304573 PMID:20026666 PMID:20124439 PMID:21816778 PMID:22239554 More... NCBI chr 7:107,285,584...107,288,702
Ensembl chr 7:107,285,654...107,288,702
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: Fredrickson type IIa hyperlipoproteinemia
ClinVar PMID:19743957 PMID:20800056 PMID:24497850 PMID:25215231 PMID:25741868 NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
JBrowse link
G Apoa2 apolipoprotein A2 ISO ClinVar Annotator: match by OMIM:143890 OMIM
ClinVar
PMID:12522687 NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355
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 hypercholesterolemias
DNA:deletion:promoter, exon:
ClinVar
RGD
PMID:221546 PMID:1360085 PMID:1424233 PMID:1454832 PMID:1466657 More... RGD:11527221 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
JBrowse link
G Apoe apolipoprotein E IMP RGD PMID:29166645 RGD:150520219 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Apoeem1Ejt apolipoprotein E; TALEN induced mutant 1, Ejt IMP RGD PMID:29166645 RGD:150520219
G Apoeem1Sage apolipoprotein E; endonuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:29166645 RGD:150520219
G Carm1 coactivator-associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689
JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:14756670 PMID:17094996 PMID:19538517 PMID:20045108 PMID:22698793 More... NCBI chr 8:20,342,089...20,394,660
Ensembl chr 8:20,342,089...20,394,552
JBrowse link
G Ephx2 epoxide hydrolase 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 1 OMIM
ClinVar
PMID:10862610 PMID:12522687 PMID:14673705 PMID:14732757 PMID:15845398 More... NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615
JBrowse link
G Ghr growth hormone receptor ISO ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia OMIM
ClinVar
PMID:25741868 PMID:26467025 NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
JBrowse link
G Gk glycerol kinase IDA RGD PMID:10642898 RGD:13702898 NCBI chr  X:50,162,089...50,238,707
Ensembl chr  X:50,163,123...50,238,631
JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL
ClinVar Annotator: match by term: Familial hypercholesterolemias
ClinVar Annotator: match by OMIM:143890
OMIM
ClinVar
PMID:200368 PMID:1057090 PMID:1139254 PMID:1301940 PMID:1301956 More... NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:11326085 PMID:12464675 PMID:12788851 PMID:21872251 PMID:22157599 More... NCBI chr 5:146,955,607...146,978,601
Ensembl chr 5:146,955,607...146,978,601
JBrowse link
G LOC691141 hypothetical protein LOC691141 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 8:20,061,494...20,095,705
Ensembl chr 8:20,078,639...20,095,696
JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 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 hypercholesterolemias
ClinVar PMID:10357843 PMID:10764678 PMID:11668641 PMID:12175777 PMID:12730697 More... NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688
JBrowse link
G Pon2 paraoxonase 2 ISO DNA:missense mutation:cds:p.S311C (human) RGD PMID:16776623 RGD:1642625 NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248
JBrowse link
G Ppp1r17 protein phosphatase 1, regulatory subunit 17 ISO OMIM NCBI chr 4:85,213,595...85,230,607
Ensembl chr 4:85,213,887...85,230,603
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:serum: RGD PMID:19004443 RGD:13207334 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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 PMID:1998642 PMID:25741868 PMID:28492532 NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
JBrowse link
G Stap1 signal transducing adaptor family member 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:26036859 NCBI chr14:21,950,466...21,981,395
Ensembl chr14:21,952,496...21,981,245
JBrowse link
G Timm29 translocase of inner mitochondrial membrane 29 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 8:20,145,264...20,148,233 JBrowse link
G Tmed1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 8:20,059,937...20,063,567
Ensembl chr 8:20,059,892...20,063,677
JBrowse link
G Yipf2 Yip1 domain family, member 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 8:20,141,148...20,145,349
Ensembl chr 8:20,141,155...20,145,339
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: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B ClinVar PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1454832 More... NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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:1400331 PMID:1479292 PMID:1505655 PMID:1511985 More... NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
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 chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
JBrowse link
G Apoc2 apolipoprotein C2 ISO ClinVar Annotator: match by OMIM:207750
ClinVar Annotator: match by term: C-II ANAPOLIPOPROTEINEMIA
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE IB
ClinVar
CTD
PMID:213719 PMID:1349286 PMID:1628605 PMID:1782747 PMID:1971748 More... NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
JBrowse link
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Hyperlipoproteinemia, type I
ClinVar Annotator: match by term: Hyperlipemia essential familial
DNA:missense mutation:exon:p.D156G (human)
ClinVar Annotator: match by OMIM:238600
ClinVar
OMIM
RGD
PMID:1351946 PMID:1371284 PMID:1400331 PMID:1479292 PMID:1505655 More... RGD:1580533, RGD:1556752, RGD:1302536 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
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:1400331 PMID:1479292 PMID:1505655 PMID:1511985 More... NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha susceptibility ISO ClinVar Annotator: match by term: Hyperapobetalipoproteinemia, susceptibility to ClinVar
OMIM
PMID:10828087 PMID:12006394 PMID:15309680 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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 chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
JBrowse link
G Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 3 ClinVar PMID:28492532 PMID:30269829 NCBI chr 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571
JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3
ClinVar Annotator: match by term: Familial hypercholesterolemia 3
ClinVar Annotator: match by OMIM:603776
OMIM
ClinVar
PMID:9536098 PMID:10357843 PMID:10764678 PMID:11668641 PMID:12175777 More... NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688
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 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO DNA:polymorphism: :p.Q27E RGD PMID:17020471 RGD:1601121 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
JBrowse link
G Apoa1 apolipoprotein A1 ISO DNA:polymorphism:promoter:-75G>A (human) RGD PMID:9699897 RGD:1601186 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Apoa2 apolipoprotein A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12522687 NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355
JBrowse link
G Apoa4 apolipoprotein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia
ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:144010
ClinVar
CTD
OMIM
RGD
PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1454832 More... RGD:1626106, RGD:1578415, RGD:1580998 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
JBrowse link
G Apoc3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
JBrowse link
G Ldlr low density lipoprotein receptor ISO DNA:deletion: :p.G197del (human)
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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1139254 PMID:1301940 PMID:1301956 PMID:1319734 PMID:1352322 More... RGD:5490248, RGD:1581824, RGD:1331525 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO RGD PMID:17380167 RGD:1626106 NCBI chr 5:146,955,607...146,978,601
Ensembl chr 5:146,955,607...146,978,601
JBrowse link
G Lipc lipase C, hepatic type ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:16280123 RGD:1642031 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mttp microsomal triglyceride transfer protein ISO RGD PMID:17215532 RGD:1625482 NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 severity ISO ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia
DNA:missense mutation:cds:p.D374Y (human)
DNA:missense mutations:cds:p.S127R, p.F216L (human)
ClinVar
RGD
PMID:15654334 PMID:16424354 PMID:16554528 PMID:16571601 PMID:17316651 More... RGD:1626106, RGD:1581002, RGD:1581001, RGD:1580998 NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 PMID:16238680 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Pon2 paraoxonase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248
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 chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
JBrowse link
G Apoc3 apolipoprotein C3 ISO RGD PMID:2879788 RGD:1578447 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
JBrowse link
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia
ClinVar Annotator: match by term: APOE5 VARIANT
ClinVar Annotator: match by term: BROAD-BETALIPOPROTEINEMIA
DNA:missense mutation:cds:p.R158C (human)
DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human)
ClinVar Annotator: match by term: FAMILIAL HYPERCHOLESTEROLEMIA WITH HYPERLIPEMIA
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia, UMLS MESH term: Broad-beta Hyperlipoproteinemia
ClinVar
OMIM
CTD
RGD
PMID:1356443 PMID:1360898 PMID:1361196 PMID:1713245 PMID:2101409 More... RGD:1331525, RGD:14401584, RGD:12880367 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia ClinVar PMID:25741868 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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 chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
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
ClinVar Annotator: match by OMIM:144650
OMIM
ClinVar
PMID:16200213 PMID:25741868 NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    Nutritional and Metabolic Diseases 5591
      disease of metabolism 5591
        lipid metabolism disorder 1023
          familial hyperlipidemia 308
            Hyperlipoproteinemias 68
              Hyperlipoproteinemia Type II + 62
              Lipoprotein Types--Lp System Lp(A) Hyperlipoproteinemia 0
              cholesterol-ester transfer protein deficiency + 1
              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 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        genetic disease 9072
          inherited metabolic disorder 2661
            lipid metabolism disorder 1023
              Dyslipidemias 334
                familial hyperlipidemia 308
                  Hyperlipoproteinemias 68
                    Hyperlipoproteinemia Type II + 62
                    Lipoprotein Types--Lp System Lp(A) Hyperlipoproteinemia 0
                    cholesterol-ester transfer protein deficiency + 1
                    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