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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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155
JBrowse link
G ADRB2 adrenoceptor beta 2 IAGP DNA:polymorphism: :p.Q27E RGD PMID:17020471 RGD:1601121 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
JBrowse link
G APOA1 apolipoprotein A1 IAGP DNA:polymorphism:promoter:-75G>A (human) RGD PMID:9699897 RGD:1601186 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G APOA2 apolipoprotein A2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12522687 NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,292...161,223,631
JBrowse link
G APOA4 apolipoprotein A4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304
JBrowse link
G APOB apolipoprotein B TAS
IAGP
EXP
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
CTD
OMIM
RGD
PMID:221546 PMID:1360085 PMID:1431583 PMID:1454832 PMID:1466657 More... RGD:1580998, RGD:1578415, RGD:1626106 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G APOB3'MAR APOB 3' scaffold/matrix attachment region IAGP 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
ClinVar PMID:19602640 PMID:22923420 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:21,000,401...21,001,841 JBrowse link
G APOC3 apolipoprotein C3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072
JBrowse link
G APOE apolipoprotein E EXP CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G CETP cholesteryl ester transfer protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr16:56,961,950...56,983,845
Ensembl chr16:56,961,923...56,983,845
JBrowse link
G GHR growth hormone receptor IAGP ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia ClinVar PMID:7565946 PMID:8504296 PMID:17462934 PMID:25741868 PMID:26467025 More... NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chr 5:75,336,529...75,362,116
Ensembl chr 5:75,336,329...75,364,001
JBrowse link
G LDLR low density lipoprotein receptor IAGP
EXP
IEA
DNA:deletion: :p.G197del (human)
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia
ClinVar Annotator: match by term: Hyperlipoproteinemia Type II
ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B
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 chr19:11,089,463...11,133,820
Ensembl chr19:11,089,462...11,133,820
JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 TAS RGD PMID:17380167 RGD:1626106 NCBI chr 1:25,543,606...25,590,400
Ensembl chr 1:25,543,606...25,568,886
JBrowse link
G LIPC lipase C, hepatic type EXP CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr15:58,410,554...58,569,844
Ensembl chr15:58,410,569...58,569,844
JBrowse link
G LOC106560211 APOB 5' regulatory region IAGP ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B ClinVar PMID:9536098 PMID:12655413 PMID:16199547 PMID:17576681 PMID:20032471 More... NCBI chr 2:21,041,088...21,049,341 JBrowse link
G LPL lipoprotein lipase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
JBrowse link
G MIR6886 microRNA 6886 IAGP ClinVar Annotator: match by term: Hyperlipoproteinemia Type II ClinVar PMID:7616128 PMID:9254862 PMID:10090473 PMID:10441197 PMID:10735632 More... NCBI chr19:11,113,474...11,113,534
Ensembl chr19:11,113,474...11,113,534
JBrowse link
G MMP9 matrix metallopeptidase 9 IEP protein:increased expression:serum RGD PMID:16280123 RGD:1642031 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MTTP microsomal triglyceride transfer protein IDA RGD PMID:17215532 RGD:1625482 NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,564,081...99,623,997
JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 severity IAGP
TAS
DNA:missense mutation:cds:p.D374Y (human)
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia
DNA:missense mutations:cds:p.S127R, p.F216L (human)
ClinVar
RGD
PMID:15654334 PMID:16424354 PMID:16554528 PMID:16571601 PMID:17316651 More... RGD:1581002, RGD:1581001, RGD:1580998, RGD:1626106 NCBI chr 1:55,039,548...55,064,852
Ensembl chr 1:55,039,447...55,064,852
JBrowse link
G PON1 paraoxonase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16030523 PMID:16238680 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G PON2 paraoxonase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 7:95,404,862...95,435,028
Ensembl chr 7:95,404,862...95,435,329
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 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:25,831,906...25,859,457
Ensembl chr 1:25,831,913...25,859,458
JBrowse link
G CATSPER4 cation channel sperm associated 4 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,190,602...26,202,964
Ensembl chr 1:26,190,561...26,202,968
JBrowse link
G CD52 CD52 molecule IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,317,958...26,320,523
Ensembl chr 1:26,317,958...26,320,523
JBrowse link
G CEP85 centrosomal protein 85 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,234,200...26,278,808
Ensembl chr 1:26,234,200...26,278,808
JBrowse link
G CNKSR1 connector enhancer of kinase suppressor of Ras 1 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,177,491...26,189,884
Ensembl chr 1:26,177,484...26,189,884
JBrowse link
G CRYBG2 crystallin beta-gamma domain containing 2 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,321,865...26,354,130
Ensembl chr 1:26,321,698...26,360,080
JBrowse link
G DHDDS dehydrodolichyl diphosphate synthase subunit IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,432,321...26,471,306
Ensembl chr 1:26,432,282...26,471,306
JBrowse link
G EXTL1 exostosin like glycosyltransferase 1 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,021,775...26,036,464
Ensembl chr 1:26,019,884...26,036,464
JBrowse link
G FAM110D family with sequence similarity 110 member D IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,159,079...26,163,962
Ensembl chr 1:26,159,079...26,163,962
JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 IAGP ClinVar Annotator: match by term: Hypercholesterolemia, autosomal recessive
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar Annotator: match by term: Familial hypercholesterolemia 4
ClinVar
OMIM
PMID:4351242 PMID:7628519 PMID:9536098 PMID:11326085 PMID:11897284 More... NCBI chr 1:25,543,606...25,590,400
Ensembl chr 1:25,543,606...25,568,886
JBrowse link
G LIN28A lin-28 homolog A IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,410,817...26,429,728
Ensembl chr 1:26,410,817...26,429,728
JBrowse link
G MAN1C1 mannosidase alpha class 1C member 1 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:25,616,791...25,784,450
Ensembl chr 1:25,616,791...25,786,206
JBrowse link
G MTFR1L mitochondrial fission regulator 1 like IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:25,819,954...25,832,938
Ensembl chr 1:25,818,640...25,832,942
JBrowse link
G PAFAH2 platelet activating factor acetylhydrolase 2 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:25,959,767...25,998,063
Ensembl chr 1:25,959,767...25,998,117
JBrowse link
G PAQR7 progestin and adipoQ receptor family member 7 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:25,861,484...25,875,708
Ensembl chr 1:25,861,484...25,875,708
JBrowse link
G PDIK1L PDLIM1 interacting kinase 1 like IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,111,162...26,125,555
Ensembl chr 1:26,111,165...26,125,555
JBrowse link
G SELENON selenoprotein N IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221
JBrowse link
G SH3BGRL3 SH3 domain binding glutamate rich protein like 3 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,280,086...26,281,522
Ensembl chr 1:26,280,086...26,281,522
JBrowse link
G SLC30A2 solute carrier family 30 member 2 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,037,252...26,046,118
Ensembl chr 1:26,037,252...26,046,118
JBrowse link
G STMN1 stathmin 1 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:25,884,179...25,906,880
Ensembl chr 1:25,884,181...25,906,991
JBrowse link
G TRIM63 tripartite motif containing 63 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,051,301...26,067,630
Ensembl chr 1:26,051,301...26,068,436
JBrowse link
G UBXN11 UBX domain protein 11 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,282,282...26,318,355
Ensembl chr 1:26,281,328...26,318,363
JBrowse link
G ZNF593 zinc finger protein 593 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,169,908...26,170,873
Ensembl chr 1:26,169,908...26,170,873
JBrowse link
G ZNF683 zinc finger protein 683 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:26,361,634...26,374,518
Ensembl chr 1:26,361,634...26,374,522
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 IAGP ClinVar Annotator: match by term: Familial hyperbeta- and prebetalipoproteinemia ClinVar PMID:2992507 PMID:3243553 PMID:6300187 PMID:9649566 PMID:16103896 More... NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar PMID:19743957 PMID:20800056 PMID:24497850 PMID:25215231 PMID:25741868 More... NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155
JBrowse link
G APOA2 apolipoprotein A2 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar
OMIM
PMID:12522687 NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,292...161,223,631
JBrowse link
G APOB apolipoprotein B IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
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 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G APOB3'MAR APOB 3' scaffold/matrix attachment region IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar PMID:19602640 PMID:22923420 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:21,000,401...21,001,841 JBrowse link
G APOE apolipoprotein E ISO RGD PMID:29166645 RGD:150520219 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G C19orf38 chromosome 19 open reading frame 38 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr19:10,836,685...10,869,790
Ensembl chr19:10,836,575...10,869,790
JBrowse link
G CARM1 coactivator associated arginine methyltransferase 1 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr19:10,871,553...10,923,075
Ensembl chr19:10,871,553...10,923,075
JBrowse link
G DNM2 dynamin 2 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488
JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:14756670 PMID:17094996 PMID:19538517 PMID:20045108 PMID:22698793 More... NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524
JBrowse link
G EPHX2 epoxide hydrolase 2 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 1 OMIM
ClinVar
PMID:10862610 PMID:12522687 PMID:14673705 PMID:14732757 PMID:15845398 More... NCBI chr 8:27,491,143...27,545,564
Ensembl chr 8:27,490,781...27,545,564
JBrowse link
G GHR growth hormone receptor IAGP ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: Familial hypercholesterolemia
OMIM
ClinVar
PMID:7565946 PMID:8504296 PMID:17462934 PMID:25741868 PMID:26467025 More... NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878
JBrowse link
G GK glycerol kinase ISO RGD PMID:10642898 RGD:13702898 NCBI chr  X:30,653,423...30,731,462
Ensembl chr  X:30,653,359...30,731,462
JBrowse link
G LDLR low density lipoprotein receptor IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL
ClinVar Annotator: match by term: Familial hypercholesterolemias
ClinVar
OMIM
PMID:200368 PMID:1057090 PMID:1073562 PMID:1139254 PMID:1301940 More... NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,462...11,133,820
JBrowse link
G LDLR-AS1 LDLR antisense RNA 1 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar Annotator: match by term: Familial hypercholesterolemias
ClinVar PMID:1301956 PMID:1319734 PMID:1348044 PMID:1727071 PMID:2318961 More... NCBI chr19:11,089,068...11,089,659 JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar PMID:4351242 PMID:11326085 PMID:12016260 PMID:12464675 PMID:12788851 More... NCBI chr 1:25,543,606...25,590,400
Ensembl chr 1:25,543,606...25,568,886
JBrowse link
G LOC106560211 APOB 5' regulatory region IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar PMID:22095935 PMID:24033266 PMID:24498611 PMID:24503134 PMID:25741868 More... NCBI chr 2:21,041,088...21,049,341 JBrowse link
G MIR199A1 microRNA 199a-1 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr19:10,817,426...10,817,496
Ensembl chr19:10,817,426...10,817,496
JBrowse link
G MIR6886 microRNA 6886 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
ClinVar Annotator: match by term: Familial hypercholesterolemias
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar PMID:1301956 PMID:2777800 PMID:7616128 PMID:8872473 PMID:9254862 More... NCBI chr19:11,113,474...11,113,534
Ensembl chr19:11,113,474...11,113,534
JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 IAGP 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 1
ClinVar Annotator: match by term: Familial hypercholesterolemias
ClinVar PMID:10357843 PMID:10764678 PMID:11668641 PMID:12175777 PMID:12730697 More... NCBI chr 1:55,039,548...55,064,852
Ensembl chr 1:55,039,447...55,064,852
JBrowse link
G PON2 paraoxonase 2 IAGP DNA:missense mutation:cds:p.S311C (human) RGD PMID:16776623 RGD:1642625 NCBI chr 7:95,404,862...95,435,028
Ensembl chr 7:95,404,862...95,435,329
JBrowse link
G PPP1R17 protein phosphatase 1 regulatory subunit 17 IAGP OMIM NCBI chr 7:31,687,215...31,708,455
Ensembl chr 7:31,687,215...31,708,455
JBrowse link
G SERPINE1 serpin family E member 1 IEP protein:increased expression:serum: RGD PMID:19004443 RGD:13207334 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:1998642 PMID:25741868 PMID:28492532 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
JBrowse link
G STAP1 signal transducing adaptor family member 1 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:26036859 NCBI chr 4:67,558,727...67,607,337
Ensembl chr 4:67,558,727...67,607,337
JBrowse link
G TIMM29 translocase of inner mitochondrial membrane 29 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr19:10,928,811...10,930,254
Ensembl chr19:10,928,811...10,933,535
JBrowse link
G TMED1 transmembrane p24 trafficking protein 1 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr19:10,832,067...10,836,212
Ensembl chr19:10,832,067...10,836,318
JBrowse link
G YIPF2 Yip1 domain family member 2 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr19:10,922,193...10,928,639
Ensembl chr19:10,922,185...10,928,681
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 IAGP 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 chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
Hyperapobetalipoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LPL lipoprotein lipase IAGP ClinVar Annotator: match by term: Hyperapobetalipoproteinemia ClinVar PMID:1351946 PMID:1371284 PMID:1400331 PMID:1479292 PMID:1505655 More... NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha susceptibility IAGP ClinVar Annotator: match by term: Hyperapobetalipoproteinemia, susceptibility to ClinVar
OMIM
PMID:10828087 PMID:12006394 PMID:15309680 NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755
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 IAGP ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 ClinVar PMID:25741868 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G BSND barttin CLCNK type accessory subunit beta IAGP ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 ClinVar PMID:28492532 NCBI chr 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172
JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 IAGP ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3
ClinVar Annotator: match by term: Familial hypercholesterolemia 3
ClinVar
OMIM
PMID:9536098 PMID:10357843 PMID:10764678 PMID:11668641 PMID:12175777 More... NCBI chr 1:55,039,548...55,064,852
Ensembl chr 1:55,039,447...55,064,852
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22067
    Nutritional and Metabolic Diseases 7386
      disease of metabolism 7386
        lipid metabolism disorder 1146
          familial hyperlipidemia 269
            Hyperlipoproteinemias 76
              Hyperlipoproteinemia Type II 63
                Familial Hyperbeta- and Prebetalipoproteinemia 1
                High Serum Cholesterol, Familial 0
                Hyperapobetalipoproteinemia 2
                Hyperlipoproteinemia Type II, and Deafness 0
                familial hypercholesterolemia + 51
Path 2
Term Annotations click to browse term
  disease 22067
    Developmental Disease 16495
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 14196
        genetic disease 13570
          inherited metabolic disorder 4945
            lipid metabolism disorder 1146
              Dyslipidemias 298
                familial hyperlipidemia 269
                  Hyperlipoproteinemias 76
                    Hyperlipoproteinemia Type II 63
                      Familial Hyperbeta- and Prebetalipoproteinemia 1
                      High Serum Cholesterol, Familial 0
                      Hyperapobetalipoproteinemia 2
                      Hyperlipoproteinemia Type II, and Deafness 0
                      familial hypercholesterolemia + 51
paths to the root