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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 chr11:60,761,669...60,869,753
Ensembl chr11:60,761,655...60,890,496
JBrowse link
G ADRB2 adrenoceptor beta 2 ISO DNA:polymorphism: :p.Q27E RGD PMID:17020471 RGD:1601121 NCBI chr 4:60,048,502...60,050,447
Ensembl chr 4:59,941,517...60,050,298
JBrowse link
G APOA1 apolipoprotein A1 ISO DNA:polymorphism:promoter:-75G>A (human) RGD PMID:9699897 RGD:1601186 NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943
JBrowse link
G APOA2 apolipoprotein A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12522687 NCBI chr38:21,263,641...21,265,887
Ensembl chr38:21,262,789...21,265,887
JBrowse link
G APOA4 apolipoprotein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 5:16,751,588...16,754,215
Ensembl chr 5:16,751,799...16,754,837
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 chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135
JBrowse link
G APOC3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 5:16,744,423...16,746,992
Ensembl chr 5:16,744,423...16,746,992
JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
JBrowse link
G GHR growth hormone receptor ISO ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia ClinVar PMID:7565946 PMID:8504296 PMID:17462934 PMID:25741868 PMID:26467025 More... NCBI chr 4:67,021,821...67,245,499
Ensembl chr 4:67,022,252...67,290,473
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294
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 chr20:50,115,175...50,152,443
Ensembl chr20:50,048,736...50,152,355
JBrowse link
G LIPC lipase C, hepatic type ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037
JBrowse link
G LPL lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr25:37,078,306...37,102,729
Ensembl chr25:37,079,756...37,102,700
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:16280123 RGD:1642031 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MTTP microsomal triglyceride transfer protein ISO RGD PMID:17215532 RGD:1625482 NCBI chr32:21,582,368...21,626,806
Ensembl chr32:21,570,801...21,628,624
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 chr 5:54,197,211...54,210,724 JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 PMID:16238680 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
JBrowse link
G PON2 paraoxonase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr14:20,652,905...20,680,945
Ensembl chr14:20,652,905...20,680,980
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 2:74,097,435...74,116,824
Ensembl chr 2:74,097,508...74,118,085
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 2:73,789,706...73,804,463
Ensembl chr 2:73,789,707...73,804,373
JBrowse link
G CD52 CD52 molecule ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 2:73,699,427...73,701,046
Ensembl chr 2:73,699,425...73,701,046
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 2:73,740,112...73,774,525
Ensembl chr 2:73,741,648...73,767,968
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 2:73,805,333...73,814,711
Ensembl chr 2:73,805,710...73,814,725
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 2:73,673,090...73,698,057
Ensembl chr 2:73,669,121...73,714,705
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 2:73,583,927...73,611,321
Ensembl chr 2:73,579,042...73,610,696
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 2:73,931,074...73,946,488
Ensembl chr 2:73,932,090...73,945,930
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 2:73,826,573...73,834,040
Ensembl chr 2:73,826,900...73,827,727
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 2:74,340,272...74,363,929
Ensembl chr 2:74,341,036...74,364,162
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 2:73,638,438...73,656,841
Ensembl chr 2:73,614,531...73,628,211
Ensembl chr 2:73,614,531...73,628,211
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 2:74,164,483...74,304,059
Ensembl chr 2:74,165,127...74,304,044
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 2:74,116,837...74,133,414
Ensembl chr 2:74,117,649...74,132,758
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 2:73,963,313...73,994,901
Ensembl chr 2:73,963,360...73,994,127
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 2:74,084,915...74,095,633
Ensembl chr 2:74,093,089...74,094,625
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 2:73,850,177...73,862,798
Ensembl chr 2:73,853,519...73,860,192
JBrowse link
G SELENON selenoprotein N ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 2:74,134,448...74,149,585 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 2:73,737,411...73,738,902
Ensembl chr 2:73,737,413...73,738,907
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 2:73,922,443...73,929,924
Ensembl chr 2:73,921,878...73,928,874
JBrowse link
G STMN1 stathmin 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 2:74,035,462...74,043,352
Ensembl chr 2:74,035,457...74,043,349
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 2:73,841,868...73,918,371
Ensembl chr 2:73,888,689...73,909,414
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 2:73,714,722...73,736,716
Ensembl chr 2:73,714,808...73,736,697
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 2:73,819,728...73,820,705
Ensembl chr 2:73,819,728...73,820,672
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 2:73,656,842...73,667,621
Ensembl chr 2:73,658,525...73,667,605
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 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
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 PMID:19743957 PMID:20800056 PMID:24497850 PMID:25215231 PMID:25741868 More... NCBI chr11:60,761,669...60,869,753
Ensembl chr11:60,761,655...60,890,496
JBrowse link
G APOA2 apolipoprotein A2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia OMIM
ClinVar
PMID:12522687 NCBI chr38:21,263,641...21,265,887
Ensembl chr38:21,262,789...21,265,887
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 chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135
JBrowse link
G APOE apolipoprotein E ISO RGD PMID:29166645 RGD:150520219 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
JBrowse link
G C20H19orf38 chromosome 20 C19orf38 homolog ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr20:50,374,159...50,395,695
Ensembl chr20:50,373,622...50,386,594
JBrowse link
G CARM1 coactivator associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr20:50,328,466...50,371,845
Ensembl chr20:50,331,030...50,348,195
JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr20:50,398,866...50,487,303
Ensembl chr20:50,398,864...50,487,241
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 chr20:50,029,354...50,066,829
Ensembl chr20:50,029,369...50,066,829
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 chr25:30,045,040...30,107,110
Ensembl chr25:30,045,291...30,107,110
JBrowse link
G GHR growth hormone receptor ISO ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 OMIM
ClinVar
PMID:7565946 PMID:8504296 PMID:17462934 PMID:25741868 PMID:26467025 More... NCBI chr 4:67,021,821...67,245,499
Ensembl chr 4:67,022,252...67,290,473
JBrowse link
G GK glycerol kinase ISO RGD PMID:10642898 RGD:13702898 NCBI chr  X:25,748,060...25,834,462 JBrowse link
G LDLR low density lipoprotein receptor ISO ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 OMIM
ClinVar
PMID:200368 PMID:1057090 PMID:1073562 PMID:1139254 PMID:1301940 More... NCBI chr20:50,115,175...50,152,443
Ensembl chr20:50,048,736...50,152,355
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 2:74,340,272...74,363,929
Ensembl chr 2:74,341,036...74,364,162
JBrowse link
G MIR199-1 microRNA mir-199-1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr20:50,410,924...50,410,984
Ensembl chr20:50,410,913...50,410,994
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 5:54,197,211...54,210,724 JBrowse link
G PON2 paraoxonase 2 ISO DNA:missense mutation:cds:p.S311C (human) RGD PMID:16776623 RGD:1642625 NCBI chr14:20,652,905...20,680,945
Ensembl chr14:20,652,905...20,680,980
JBrowse link
G PPP1R17 protein phosphatase 1 regulatory subunit 17 ISO OMIM NCBI chr14:44,199,502...44,219,258
Ensembl chr14:44,174,748...44,218,200
JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:serum: RGD PMID:19004443 RGD:13207334 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
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 chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836
JBrowse link
G STAP1 signal transducing adaptor family member 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:26036859 NCBI chr13:58,091,457...58,148,902
Ensembl chr13:58,091,477...58,133,711
JBrowse link
G TIMM29 translocase of inner mitochondrial membrane 29 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr20:50,323,735...50,326,483
Ensembl chr20:50,325,482...50,326,711
JBrowse link
G TMED1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr20:50,395,862...50,399,118
Ensembl chr20:50,396,005...50,407,535
JBrowse link
G YIPF2 Yip1 domain family member 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr20:50,326,437...50,331,038
Ensembl chr20:50,325,271...50,331,031
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 chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135
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 chr25:37,078,306...37,102,729
Ensembl chr25:37,079,756...37,102,700
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 chr10:19,934,020...20,006,096
Ensembl chr10:19,934,165...20,006,146
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 chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135
JBrowse link
G BSND barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 ClinVar PMID:28492532 NCBI chr 5:54,225,393...54,239,305
Ensembl chr 5:54,225,389...54,237,110
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 5:54,197,211...54,210,724 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14720
    Nutritional and Metabolic Diseases 5677
      disease of metabolism 5677
        lipid metabolism disorder 969
          familial hyperlipidemia 199
            Hyperlipoproteinemias 63
              Hyperlipoproteinemia Type II 58
                Familial Hyperbeta- and Prebetalipoproteinemia 1
                High Serum Cholesterol, Familial 0
                Hyperapobetalipoproteinemia 2
                Hyperlipoproteinemia Type II, and Deafness 0
                familial hypercholesterolemia + 47
Path 2
Term Annotations click to browse term
  disease 14720
    Developmental Disease 11907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10618
        genetic disease 10194
          inherited metabolic disorder 3949
            lipid metabolism disorder 969
              Dyslipidemias 224
                familial hyperlipidemia 199
                  Hyperlipoproteinemias 63
                    Hyperlipoproteinemia Type II 58
                      Familial Hyperbeta- and Prebetalipoproteinemia 1
                      High Serum Cholesterol, Familial 0
                      Hyperapobetalipoproteinemia 2
                      Hyperlipoproteinemia Type II, and Deafness 0
                      familial hypercholesterolemia + 47
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