Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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;   HYPERCHOLESTEROLEMIA, FAMILIAL, 2;   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 CONDITION;   APOB-RELATED DISORDER
 primary_id: MESH:D006938
 alt_id: MIM:144010
 xref: NCI:C123416;   NCI:C176014


show annotations for term's descendants           Sort by:
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
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia		 CTD
ClinVar		 PMID:16030523 PMID:19743957 PMID:20800056 PMID:24497850 PMID:25215231 More... 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 Ampd1 adenosine monophosphate deaminase 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938 		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 CTD Direct Evidence: marker/mechanism
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
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 | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2
ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | 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 | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2
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 IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2
ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | 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 2
ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | 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: LDL RECEPTOR DISORDER
ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | 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		 OMIM
CTD
ClinVar
RGD		 PMID:174884 PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 More... RGD:1626106, RGD:1580998, RGD:1578415 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 Ghr growth hormone receptor ISO ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia ClinVar PMID:7565946 PMID:8504296 PMID:9360502 PMID:11502828 PMID:12910492 More... NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735 		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)
CTD Direct Evidence: marker/mechanism
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 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
ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | 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: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa
ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | 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-LOW-DENSITY-LIPOPROTEINEMIA | 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
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 IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2
ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | 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 IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2
ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | 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 IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER		 CTD
ClinVar
RGD		 PMID:189940 PMID:200368 PMID:251034 PMID:268635 PMID:322919 More... RGD:5490248, RGD:1331525, RGD:1581824 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: Hyper-beta-lipoproteinemia ClinVar
RGD		 PMID:25741868 PMID:28492532 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
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B
DNA:missense mutation:cds:p.D374Y (human)
DNA:missense mutations:cds:p.S127R, p.F216L (human)		 ClinVar
RGD		 PMID:10357843 PMID:10764678 PMID:11668641 PMID:11941481 PMID:12175777 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
autosomal recessive hypercholesterolemia 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: Homozygous familial hypercholesterolemia ClinVar PMID:174884 PMID:1360085 PMID:1466657 PMID:1493642 PMID:1600334 More... NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
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 5:146,722,329...146,734,924
Ensembl chr 5:146,722,337...146,736,501 		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 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: Hypercholesterolemia, familial, 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: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,356,571...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: Hypercholesterolemia, familial, 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: Hypercholesterolemia, familial, 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: Hypercholesterolemia, familial, 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: Hypercholesterolemia, familial, 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: Hypercholesterolemia, familial, 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 Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Familial hypercholesterolemia - homozygous | ClinVar Annotator: match by term: Homozygous familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:322919 PMID:484703 PMID:1000167 PMID:1057090 PMID:1301940 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
ISS		 ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2 | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal recessive | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar Annotator: match by term: Familial hypercholesterolemia - homozygous | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2 | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal recessive | 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 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: Hypercholesterolemia, familial, 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: Hypercholesterolemia, familial, 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: Hypercholesterolemia, familial, 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: Hypercholesterolemia, familial, 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: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,709,159...146,720,577
Ensembl chr 5:146,708,900...146,720,673 		JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Homozygous familial hypercholesterolemia ClinVar PMID:10357843 PMID:10764678 PMID:14727179 PMID:15099351 PMID:15358785 More... NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688 		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 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: Hypercholesterolemia, familial, 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: Hypercholesterolemia, familial, 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: Hypercholesterolemia, familial, 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: Hypercholesterolemia, familial, 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: Hypercholesterolemia, familial, 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: Hypercholesterolemia, familial, 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: Hypercholesterolemia, familial, 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: Hypercholesterolemia, familial, 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
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:3745433 PMID:6300187 PMID:7735921 More... NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
familial hypercholesterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:19743957 PMID:20800056 PMID:24497850 PMID:25215231 PMID:25741868 More... NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170 		JBrowse link
G Ap1m2 adaptor related protein complex 1 subunit mu 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,838,579...19,856,560
Ensembl chr 8:19,838,580...19,856,482 		JBrowse link
G Apoa2 apolipoprotein A2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 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 DNA:deletion:promoter, exon:
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: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | 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		 ClinVar
RGD		 PMID:174884 PMID:221546 PMID:1360085 PMID:1424233 PMID:1454832 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
ISO		 ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar
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 Atg4d autophagy related 4D, cysteine peptidase ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,807,733...19,817,321
Ensembl chr 8:19,807,766...19,817,321 		JBrowse link
G C8h19orf38 similar to human chromosome 19 open reading frame 38 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:16250003 PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:20,061,494...20,095,705
Ensembl chr 8:20,078,639...20,095,696 		JBrowse link
G Carm1 coactivator-associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:16250003 PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689 		JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:8528202 PMID:10531322 PMID:11230183 PMID:14635102 PMID:15087459 More... NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Cdc37 cell division cycle 37, HSP90 cochaperone ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,677,400...19,690,761
Ensembl chr 8:19,671,938...19,690,809 		JBrowse link
G Cdkn2d cyclin dependent kinase inhibitor 2D ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,831,874...19,834,640
Ensembl chr 8:19,831,866...19,834,674 		JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:16250003 PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		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 8:20,342,430...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: Hypercholesterolemia, familial, 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 Fdx2 ferredoxin 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,604,916...19,609,832
Ensembl chr 8:19,604,916...19,609,849 		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
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia		 OMIM
ClinVar		 PMID:7565946 PMID:8504296 PMID:9360502 PMID:11502828 PMID:12910492 More... 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 Icam1 intercellular adhesion molecule 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Icam4 intercellular adhesion molecule 4, Landsteiner-Wiener blood group ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,566,075...19,567,171
Ensembl chr 8:19,566,075...19,567,171 		JBrowse link
G Icam5 intercellular adhesion molecule 5 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,567,390...19,575,588
Ensembl chr 8:19,568,600...19,575,588 		JBrowse link
G Ilf3 interleukin enhancer binding factor 3 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,922,409...19,960,495
Ensembl chr 8:19,922,460...19,960,350 		JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862 		JBrowse link
G Kri1 KRI1 homolog ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,817,005...19,831,516
Ensembl chr 8:19,817,017...19,831,392 		JBrowse link
G Ldlr low density lipoprotein receptor 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 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition
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: LDLR-related condition
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
OMIM:143890
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1		 OMIM
ClinVar
MouseDO		 PMID:189940 PMID:200368 PMID:251034 PMID:268635 PMID:322919 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 Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:4351242 PMID:9536098 PMID:11326085 PMID:12016260 PMID:12464675 More... NCBI chr 5:146,955,607...146,978,601
Ensembl chr 5:146,955,607...146,978,601 		JBrowse link
G Mrpl4 mitochondrial ribosomal protein L4 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,539,593...19,545,608
Ensembl chr 8:19,539,593...19,545,608 		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 Annotator: match by term: LDLR-related condition ClinVar PMID:800756 PMID:2120714 PMID:2246507 PMID:9536098 PMID:10357843 More... NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688 		JBrowse link
G Pde4a phosphodiesterase 4A ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,690,816...19,753,538
Ensembl chr 8:19,703,290...19,751,961 		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 susceptibility ISO OMIM NCBI chr 4:85,213,595...85,230,607
Ensembl chr 4:85,213,887...85,230,603 		JBrowse link
G Qtrt1 queuine tRNA-ribosyltransferase catalytic subunit 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,965,801...19,973,843
Ensembl chr 8:19,966,336...19,973,837 		JBrowse link
G Raver1 ribonucleoprotein, PTB-binding 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,610,464...19,629,188
Ensembl chr 8:19,610,466...19,629,152 		JBrowse link
G Rbp4 retinol binding protein 4 disease_progression ISO associated with myocardial infarction; protein:decreased expression:blood serum (human) RGD PMID:24720534 RGD:329845858 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399 		JBrowse link
G S1pr2 sphingosine-1-phosphate receptor 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,503,276...19,514,169
Ensembl chr 8:19,502,627...19,523,574 		JBrowse link
G S1pr5 sphingosine-1-phosphate receptor 5 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,786,676...19,791,862
Ensembl chr 8:19,786,663...19,791,795 		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 Slc44a2 solute carrier family 44 member 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,870,867...19,905,345
Ensembl chr 8:19,870,888...19,905,342 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:1998642 PMID:16250003 PMID:20809525 PMID:21382890 PMID:25741868 More... 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: Hypercholesterolemia, familial, 1 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 Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:16250003 PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 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:16250003 PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:20,059,937...20,063,567
Ensembl chr 8:20,059,892...20,063,677 		JBrowse link
G Tyk2 tyrosine kinase 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044 		JBrowse link
G Yipf2 Yip1 domain family, member 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:16250003 PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:20,141,148...20,145,349
Ensembl chr 8:20,141,155...20,145,339 		JBrowse link
G Zglp1 zinc finger, GATA-like protein 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,599,871...19,604,762
Ensembl chr 8:19,599,998...19,604,547 		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 Ampd1 adenosine monophosphate deaminase 1 ISO ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938 		JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE | ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B ClinVar PMID:174884 PMID:1360085 PMID:1431583 PMID:1466657 PMID:1493642 More... NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B ClinVar PMID:7616128 PMID:7709162 PMID:9039985 PMID:9259195 PMID:9654205 More... NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		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 chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO ClinVar Annotator: match by term: Hyperapobetalipoproteinemia, susceptibility to ClinVar 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: Hypercholesterolemia, autosomal dominant, 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: Familial hypercholesterolemia 3 | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 | ClinVar Annotator: match by term: PCSK9-related disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:800756 PMID:2120714 PMID:2246507 PMID:9536098 PMID:10357843 More... NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    Nutritional and Metabolic Diseases 8520
      disease of metabolism 8520
        lipid metabolism disorder 1901
          familial hyperlipidemia 385
            Hyperlipoproteinemias 94
              Hyperlipoproteinemia Type II 86
                Familial Hyperbeta- and Prebetalipoproteinemia 1
                High Serum Cholesterol, Familial 0
                Hyperapobetalipoproteinemia 2
                Hyperlipoproteinemia Type II, and Deafness 0
                familial hypercholesterolemia + 75
Path 2
Term Annotations click to browse term
  disease 19102
    Developmental Disease 14601
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          inherited metabolic disorder 6605
            lipid metabolism disorder 1901
              Dyslipidemias 418
                familial hyperlipidemia 385
                  Hyperlipoproteinemias 94
                    Hyperlipoproteinemia Type II 86
                      Familial Hyperbeta- and Prebetalipoproteinemia 1
                      High Serum Cholesterol, Familial 0
                      Hyperapobetalipoproteinemia 2
                      Hyperlipoproteinemia Type II, and Deafness 0
                      familial hypercholesterolemia + 75
paths to the root