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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, sub-family A (ABC1), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895
JBrowse link
G Adrb2 adrenergic receptor, beta 2 ISO DNA:polymorphism: :p.Q27E RGD PMID:17020471 RGD:1601121 NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030
JBrowse link
G Apoa1 apolipoprotein A-I ISO DNA:polymorphism:promoter:-75G>A (human) RGD PMID:9699897 RGD:1601186 NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764
JBrowse link
G Apoa2 apolipoprotein A-II ISO CTD Direct Evidence: marker/mechanism CTD PMID:12522687 NCBI chr 1:171,049,133...171,053,948
Ensembl chr 1:171,052,623...171,053,948
JBrowse link
G Apoa4 apolipoprotein A-IV ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 9:46,152,142...46,154,756
Ensembl chr 9:46,151,994...46,154,757
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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1454832 More... RGD:1580998, RGD:1626106, RGD:1578415 NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835
JBrowse link
G Apoc3 apolipoprotein C-III ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 9:46,144,348...46,146,934
Ensembl chr 9:46,144,231...46,146,934
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
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 chr15:3,347,237...3,612,834
Ensembl chr15:3,347,242...3,612,974
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-Coenzyme A reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chr13:96,785,470...96,807,444
Ensembl chr13:96,785,475...96,807,444
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: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1139254 PMID:1301940 PMID:1301956 PMID:1319734 PMID:1352322 More... RGD:5490248, RGD:1331525, RGD:1581824 NCBI chr 9:21,634,872...21,661,215
Ensembl chr 9:21,634,779...21,661,215
JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO RGD PMID:17380167 RGD:1626106 NCBI chr 4:134,468,865...134,495,342
Ensembl chr 4:134,468,865...134,495,335
JBrowse link
G Lipc lipase, hepatic ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 9:70,705,410...70,859,503
Ensembl chr 9:70,705,410...70,859,508
JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 8:69,333,207...69,359,584
Ensembl chr 8:69,333,143...69,360,100
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:16280123 RGD:1642031 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Mttp microsomal triglyceride transfer protein ISO RGD PMID:17215532 RGD:1625482 NCBI chr 3:137,795,616...137,849,179
Ensembl chr 3:137,795,615...137,850,729
JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 severity ISO DNA:missense mutations:cds:p.S127R, p.F216L (human)
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia
DNA:missense mutation:cds:p.D374Y (human)
ClinVar
RGD
PMID:15654334 PMID:16424354 PMID:16554528 PMID:16571601 PMID:17316651 More... RGD:1580998, RGD:1626106, RGD:1581001, RGD:1581002 NCBI chr 4:106,299,531...106,321,522
Ensembl chr 4:106,299,526...106,321,526
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 PMID:16238680 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Pon2 paraoxonase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 6:5,264,620...5,298,408
Ensembl chr 6:5,264,147...5,298,455
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 4:134,238,310...134,251,233
Ensembl chr 4:134,238,310...134,251,238
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 4:133,939,276...133,954,743
Ensembl chr 4:133,939,281...133,954,694
JBrowse link
G Cd52 CD52 antigen ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 4:133,820,849...133,822,384
Ensembl chr 4:133,809,759...133,822,393
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 4:133,857,169...133,914,420
Ensembl chr 4:133,857,169...133,914,423
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 4:133,955,352...133,965,737
Ensembl chr 4:133,955,352...133,965,710
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 4:133,788,042...133,819,815
Ensembl chr 4:133,788,126...133,819,815
JBrowse link
G Dhdds dehydrodolichyl diphosphate synthase ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 4:133,696,339...133,728,267
Ensembl chr 4:133,696,339...133,728,229
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 4:134,083,684...134,099,893
Ensembl chr 4:134,083,683...134,111,161
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 4:133,978,413...133,993,528
Ensembl chr 4:133,978,421...133,981,417
JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO
IEA
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
OMIM:603813
OMIM
ClinVar
MouseDO
PMID:4351242 PMID:7628519 PMID:9536098 PMID:11326085 PMID:11897284 More... NCBI chr 4:134,468,865...134,495,342
Ensembl chr 4:134,468,865...134,495,335
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 4:133,730,641...133,746,504
Ensembl chr 4:133,730,641...133,746,152
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 4:134,289,001...134,432,987
Ensembl chr 4:134,289,001...134,431,601
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 4:134,252,866...134,262,698
Ensembl chr 4:134,252,861...134,262,698
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 4:134,123,631...134,154,723
Ensembl chr 4:134,123,631...134,154,724
JBrowse link
G Paqr7 progestin and adipoQ receptor family member VII ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 4:134,224,072...134,237,548
Ensembl chr 4:134,224,008...134,237,546
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 4:134,002,313...134,015,157
Ensembl chr 4:134,002,313...134,015,206
JBrowse link
G Selenon selenoprotein N ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 4:134,265,203...134,279,477
Ensembl chr 4:134,265,203...134,279,477
JBrowse link
G Sh3bgrl3 SH3 domain binding glutamic acid-rich protein-like 3 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 4:133,854,717...133,856,044
Ensembl chr 4:133,854,717...133,856,100
JBrowse link
G Slc30a2 solute carrier family 30 (zinc transporter), member 2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 4:134,070,357...134,081,795
Ensembl chr 4:134,070,492...134,081,795
JBrowse link
G Stmn1 stathmin 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 4:134,195,631...134,201,154
Ensembl chr 4:134,195,631...134,201,154
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 4:134,042,431...134,056,940
Ensembl chr 4:134,042,431...134,056,940
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 4:133,829,811...133,854,095
Ensembl chr 4:133,829,881...133,854,904
JBrowse link
G Zfp593 zinc finger protein 593 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 4:133,970,617...133,972,902
Ensembl chr 4:133,970,600...133,972,903
JBrowse link
G Zfp683 zinc finger protein 683 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 4:133,778,506...133,786,252
Ensembl chr 4:133,781,149...133,786,307
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 chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
JBrowse link
familial hypercholesterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AB124611 cDNA sequence AB124611 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 9:21,437,410...21,456,629
Ensembl chr 9:21,437,472...21,456,629
JBrowse link
G Abca1 ATP-binding cassette, sub-family A (ABC1), 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 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895
JBrowse link
G Adrb2 adrenergic receptor, beta 2 ISS OMIM:143890 MouseDO NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030
JBrowse link
G Apoa1 apolipoprotein A-I ISS OMIM:143890 MouseDO NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764
JBrowse link
G Apoa2 apolipoprotein A-II ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 OMIM
ClinVar
PMID:12522687 NCBI chr 1:171,049,133...171,053,948
Ensembl chr 1:171,052,623...171,053,948
JBrowse link
G Apob apolipoprotein B ISO
ISS
DNA:deletion:promoter, exon:
OMIM:143890
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: Familial hypercholesterolemia 1 | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
MouseDO
ClinVar
RGD
PMID:221546 PMID:1360085 PMID:1424233 PMID:1454832 PMID:1466657 More... RGD:11527221 NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835
JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:29166645 RGD:150520219 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
JBrowse link
G Carm1 coactivator-associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 9:21,458,168...21,500,763
Ensembl chr 9:21,458,190...21,503,919
JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 9:21,336,167...21,419,055
Ensembl chr 9:21,336,204...21,419,055
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 chr 9:21,711,476...21,764,006
Ensembl chr 9:21,711,156...21,763,931
JBrowse link
G Ephx2 epoxide hydrolase 2, cytoplasmic ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 OMIM
ClinVar
PMID:10862610 PMID:12522687 PMID:14673705 PMID:14732757 PMID:15845398 More... NCBI chr14:66,321,821...66,361,971
Ensembl chr14:66,321,823...66,361,949
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 chr15:3,347,237...3,612,834
Ensembl chr15:3,347,242...3,612,974
JBrowse link
G Gk glycerol kinase ISO RGD PMID:10642898 RGD:13702898 NCBI chr  X:84,745,543...84,820,425
Ensembl chr  X:84,745,543...84,820,425
JBrowse link
G Ldlr low density lipoprotein receptor ISO
IEA
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:143890
OMIM
ClinVar
MouseDO
PMID:200368 PMID:1057090 PMID:1073562 PMID:1139254 PMID:1301940 More... NCBI chr 9:21,634,872...21,661,215
Ensembl chr 9:21,634,779...21,661,215
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 chr 4:134,468,865...134,495,342
Ensembl chr 4:134,468,865...134,495,335
JBrowse link
G Mir199a-1 microRNA 199a-1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 9:21,407,791...21,407,860
Ensembl chr 9:21,407,791...21,407,860
JBrowse link
G Mttp microsomal triglyceride transfer protein ISS OMIM:143890 MouseDO NCBI chr 3:137,795,616...137,849,179
Ensembl chr 3:137,795,615...137,850,729
JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO
ISS
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:143890
ClinVar
MouseDO
PMID:10357843 PMID:10764678 PMID:11668641 PMID:12175777 PMID:12730697 More... NCBI chr 4:106,299,531...106,321,522
Ensembl chr 4:106,299,526...106,321,526
JBrowse link
G Pon2 paraoxonase 2 ISO
ISS
DNA:missense mutation:cds:p.S311C (human)
OMIM:143890
MouseDO
RGD
PMID:16776623 RGD:1642625 NCBI chr 6:5,264,620...5,298,408
Ensembl chr 6:5,264,147...5,298,455
JBrowse link
G Ppp1r17 protein phosphatase 1, regulatory subunit 17 ISO OMIM NCBI chr 6:55,994,482...56,009,674
Ensembl chr 6:55,994,482...56,009,674
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO protein:increased expression:serum: RGD PMID:19004443 RGD:13207334 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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 chr 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526
JBrowse link
G Stap1 signal transducing adaptor family member 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:26036859 NCBI chr 5:86,219,446...86,251,859
Ensembl chr 5:86,219,605...86,253,984
JBrowse link
G Timm29 translocase of inner mitochondrial membrane 29 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 9:21,504,018...21,507,266
Ensembl chr 9:21,504,018...21,507,266
JBrowse link
G Tmed1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 9:21,418,676...21,421,530
Ensembl chr 9:21,418,849...21,421,548
JBrowse link
G Yipf2 Yip1 domain family, member 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 9:21,499,978...21,504,131
Ensembl chr 9:21,499,978...21,504,124
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 chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835
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 8:69,333,207...69,359,584
Ensembl chr 8:69,333,143...69,360,100
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 chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020
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 chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835
JBrowse link
G Bsnd barttin CLCNK type accessory beta subunit ISO ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 ClinVar PMID:28492532 NCBI chr 4:106,340,653...106,349,440
Ensembl chr 4:106,340,653...106,349,480
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 4:106,299,531...106,321,522
Ensembl chr 4:106,299,526...106,321,526
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15283
    Nutritional and Metabolic Diseases 5926
      disease of metabolism 5926
        lipid metabolism disorder 1027
          familial hyperlipidemia 206
            Hyperlipoproteinemias 64
              Hyperlipoproteinemia Type II 58
                Familial Hyperbeta- and Prebetalipoproteinemia 1
                High Serum Cholesterol, Familial 0
                Hyperapobetalipoproteinemia 2
                Hyperlipoproteinemia Type II, and Deafness 0
                familial hypercholesterolemia + 50
Path 2
Term Annotations click to browse term
  disease 15283
    Developmental Disease 12305
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11014
        genetic disease 10547
          inherited metabolic disorder 4125
            lipid metabolism disorder 1027
              Dyslipidemias 233
                familial hyperlipidemia 206
                  Hyperlipoproteinemias 64
                    Hyperlipoproteinemia Type II 58
                      Familial Hyperbeta- and Prebetalipoproteinemia 1
                      High Serum Cholesterol, Familial 0
                      Hyperapobetalipoproteinemia 2
                      Hyperlipoproteinemia Type II, and Deafness 0
                      familial hypercholesterolemia + 50
paths to the root