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   new 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

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:Hypercholesterolemia
go back to main search page
Accession:DOID:9000808 term browser browse the term
Definition:A condition with abnormally high levels of CHOLESTEROL in the blood. It is defined as a cholesterol value exceeding the 95th percentile for the population.
Synonyms:exact_synonym: Elevated Cholesterols;   High Cholesterol Level;   High Cholesterol Levels;   Hypercholesteremia;   Hypercholesteremias;   elevated cholesterol;   hypercholesterolaemia;   hypercholesterolemias
 related_synonym: HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO
 primary_id: MESH:D006937


show annotations for term's descendants           Sort by:
Hypercholesterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP-binding cassette, sub-family A member 1 ISO mRNA:increased expression:liver, jejunum (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22022523 PMID:15118671 PMID:24619822 RGD:1331525, RGD:19165129 NCBI chr 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895 		JBrowse link
G Abcb11 ATP-binding cassette, sub-family B member 11 IDA RGD PMID:21726512 RGD:14688050 NCBI chr 2:69,068,626...69,172,960
Ensembl chr 2:69,068,626...69,172,958 		JBrowse link
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar NCBI chr17:84,965,602...84,990,439
Ensembl chr17:84,965,662...84,990,439 		JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO DNA:polymorphism: :p.M429V RGD PMID:15816807 RGD:1601094 NCBI chr17:84,983,730...85,007,761
Ensembl chr17:84,983,730...85,007,761 		JBrowse link
G Acat2 acetyl-Coenzyme A acetyltransferase 2 IMP RGD PMID:11100118 RGD:1556516 NCBI chr17:13,161,929...13,179,612
Ensembl chr17:13,161,777...13,179,634 		JBrowse link
G Alpl alkaline phosphatase, liver/bone/kidney ISO RGD PMID:17403193 RGD:1601171 NCBI chr 4:137,469,042...137,523,695
Ensembl chr 4:137,469,044...137,523,695 		JBrowse link
G Apoa1 apolipoprotein A-I ISO DNA:polymorphisms: :-75G>A, 83C>T (human) RGD PMID:16309370 RGD:1601184 NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764 		JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Hypercholesterolemia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1600334 PMID:20657596 PMID:22923420 PMID:24033266 PMID:25647241 More... RGD:1599167 NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835 		JBrowse link
G Apoc2 apolipoprotein C2 susceptibility ISO associated with Hypertriglyceridemia;DNA:missense mutation: :p.K38Q (human) RGD PMID:8490626 RGD:1601207 NCBI chr 7:19,405,504...19,411,866
Ensembl chr 7:19,405,504...19,411,866 		JBrowse link
G Apoc3 apolipoprotein C-III ISO RGD PMID:2879788 RGD:1578447 NCBI chr 9:46,144,348...46,146,934
Ensembl chr 9:46,144,231...46,146,934 		JBrowse link
G Apoe apolipoprotein E susceptibility
severity		 ISO
IMP		 DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human)
ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar Annotator: match by term: Hypercholesterolemia
CTD Direct Evidence: marker/mechanism
associated with Kidney Failure, Chronic; DNA:missense mutations, haplotype:cds:p.C130R, p.C176R (human)		 ClinVar
CTD
RGD		 PMID:2992507 PMID:3243553 PMID:6300187 PMID:9649566 PMID:11397713 More... RGD:1601229, RGD:13703132, RGD:6903838, RGD:734968 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113 		JBrowse link
G Atm ataxia telangiectasia mutated susceptibility IMP RGD PMID:15863839 RGD:1601249 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
G Casp3 caspase 3 ISO RGD PMID:24484682 RGD:13782354 NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724 		JBrowse link
G Casp9 caspase 9 ISO RGD PMID:24484682 RGD:13782354 NCBI chr 4:141,520,923...141,543,289
Ensembl chr 4:141,520,923...141,543,287 		JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:10946357 RGD:11040931 NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799 		JBrowse link
G Cd40 CD40 antigen treatment ISO protein:increased expression:serum RGD PMID:21574786 PMID:21574786 RGD:7248754, RGD:7248754 NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868 		JBrowse link
G Cd40lg CD40 ligand treatment ISO associated with Diabetes Mellitus, Type 2
protein:increased expression:platelet (rat)		 RGD PMID:18787388 PMID:21574786 PMID:26950185 RGD:7248428, RGD:7248754, RGD:11344960 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Ces1d carboxylesterase 1D ISO CTD Direct Evidence: therapeutic CTD PMID:12773168 NCBI chr 8:93,892,700...93,924,432
Ensembl chr 8:93,892,696...93,924,466 		JBrowse link
G Col3a1 collagen, type III, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21852083 NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866 		JBrowse link
G Cpb2 carboxypeptidase B2 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:16123492 RGD:2313641 NCBI chr14:75,479,727...75,520,995
Ensembl chr14:75,479,727...75,520,995 		JBrowse link
G Csf1 colony stimulating factor 1 (macrophage) ISO RGD PMID:9158105 RGD:1641957 NCBI chr 3:107,648,364...107,668,048
Ensembl chr 3:107,648,364...107,667,785 		JBrowse link
G Ctf1 cardiotrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21803294 NCBI chr 7:127,311,872...127,317,360
Ensembl chr 7:127,311,908...127,317,364 		JBrowse link
G Cyp51 cytochrome P450, family 51 ISO mRNA:decreased expression:liver RGD PMID:16472823 RGD:13782194 NCBI chr 5:4,130,674...4,154,697
Ensembl chr 5:4,131,145...4,154,746 		JBrowse link
G Cyp7a1 cytochrome P450, family 7, subfamily a, polypeptide 1 ISO CTD Direct Evidence: therapeutic
mRNA:decreased expression:liver		 CTD
RGD		 PMID:8245718 PMID:16472823 RGD:13782194 NCBI chr 4:6,265,612...6,275,632
Ensembl chr 4:6,265,612...6,275,633 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15486036 NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466 		JBrowse link
G Eng endoglin treatment IEP
IDA		 protein:increased expression, aortic root, aortic arch, endothelium (mouse) RGD PMID:17901886 PMID:17901886 RGD:7257552, RGD:7257552 NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO associated with Carcinoma, Ductal, Breast RGD PMID:15491965 RGD:8655598 NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257 		JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked treatment ISO RGD PMID:21966115 RGD:10449170 NCBI chr  X:73,453,089...73,472,486
Ensembl chr  X:73,453,089...73,472,800 		JBrowse link
G Gpr17 G protein-coupled receptor 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34144038 NCBI chr18:32,076,052...32,082,925
Ensembl chr18:32,076,050...32,082,689 		JBrowse link
G Gsr glutathione reductase treatment ISO RGD PMID:24770475 PMID:24120393 RGD:10401874, RGD:10401896 NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191 		JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase treatment IMP Ldlr knockout mouse RGD PMID:31589306 RGD:243065123 NCBI chr17:84,138,777...84,157,589
Ensembl chr17:84,138,585...84,155,392 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO associated with Porphyria, Acute Intermittent (MeSH:D017118); protein:reduced activity:erythrocytes RGD PMID:2809566 RGD:2301684 NCBI chr 9:44,247,645...44,255,525
Ensembl chr 9:44,247,636...44,255,525 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-Coenzyme A reductase ISO
IEP		 mRNA:decreased expression:liver (rat)
mRNA:increased expression:liver
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:8593127 PMID:1611649 PMID:24619822 PMID:25168180 PMID:17250646 RGD:5508480, RGD:19165129, RGD:13782271, RGD:5508696 NCBI chr13:96,785,470...96,807,444
Ensembl chr13:96,785,475...96,807,444 		JBrowse link
G Hnf4a hepatic nuclear factor 4, alpha resistance ISO Finnish and Mexican populations; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1B (2-1-1) RGD PMID:16804065 RGD:1601642 NCBI chr 2:163,348,731...163,414,827
Ensembl chr 2:163,348,728...163,414,830 		JBrowse link
G Hp haptoglobin ISO protein:increased expression:plasma RGD PMID:16944942 RGD:1626342 NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804 		JBrowse link
G Hspd1 heat shock protein 1 (chaperonin) ISO RGD PMID:12921987 RGD:1624216 NCBI chr 1:55,116,992...55,127,402
Ensembl chr 1:55,116,994...55,127,402 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113 		JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:17330503 RGD:1626623 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Itgam integrin alpha M ISO protein:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:18676132 RGD:329853761 NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663 		JBrowse link
G Itih4 inter alpha-trypsin inhibitor, heavy chain 4 susceptibility ISO ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to ClinVar
RGD		 PMID:14661079 PMID:14661079 RGD:1627650 NCBI chr14:30,608,433...30,623,943
Ensembl chr14:30,608,433...30,624,310 		JBrowse link
G Ldlr low density lipoprotein receptor ISO
IEP		 CTD Direct Evidence: marker/mechanism
protein:decreased expression: liver
ClinVar Annotator: match by term: Hypercholesterolemia		 CTD
ClinVar
RGD		 PMID:322919 PMID:484703 PMID:503269 PMID:1301940 PMID:1301956 More... RGD:1581819, RGD:12910100, RGD:12910104, RGD:21410185 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: Hypercholesterolemia ClinVar
RGD		 PMID:11326085 PMID:12464675 PMID:16199547 PMID:25741868 PMID:28492532 More... RGD:1626107 NCBI chr 4:134,468,865...134,495,342
Ensembl chr 4:134,468,865...134,495,335 		JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:25086370 PMID:22948215 RGD:12904911 NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876 		JBrowse link
G Lipc lipase, hepatic ISO
IAGP		 associated with Diabetes Mellitus; protein:decreased expression:plasma (human)
protein, mRNA:decreased expression:plasma, liver (rat)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:liver (mouse)		 RGD PMID:6340423 PMID:7830494 PMID:11279518 RGD:2308850, RGD:2308793, RGD:2308841 NCBI chr 9:70,705,410...70,859,503
Ensembl chr 9:70,705,410...70,859,508 		JBrowse link
G Lmna lamin A ISO ClinVar Annotator: match by term: Hypercholesterolaemia ClinVar PMID:19589617 PMID:22918509 PMID:23183350 PMID:24033266 PMID:25741868 More... NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263 		JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21852083 NCBI chr 8:69,333,207...69,359,584
Ensembl chr 8:69,333,143...69,360,100 		JBrowse link
G Lss lanosterol synthase IEP mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271 NCBI chr10:76,367,303...76,392,973
Ensembl chr10:76,367,422...76,392,972 		JBrowse link
G Mif macrophage migration inhibitory factor (glycosylation-inhibiting factor) ISO mRNA:increased expression:glomerulus RGD PMID:9158105 RGD:1641957 NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074 		JBrowse link
G Mir223 microRNA 223 IMP RGD PMID:25246565 RGD:21408582 NCBI chr  X:95,286,423...95,286,532
Ensembl chr  X:95,286,423...95,286,532 		JBrowse link
G Mvd mevalonate (diphospho) decarboxylase IEP mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271 NCBI chr 8:123,160,335...123,170,161
Ensembl chr 8:123,160,340...123,170,161 		JBrowse link
G Mylk myosin, light polypeptide kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21052790 NCBI chr16:34,565,569...34,822,806
Ensembl chr16:34,565,580...34,822,790 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14871415 NCBI chr 5:134,248,907...134,258,479
Ensembl chr 5:134,248,907...134,258,479 		JBrowse link
G Nox1 NADPH oxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20832062 NCBI chr  X:132,987,170...133,038,455
Ensembl chr  X:132,987,170...133,122,705 		JBrowse link
G Npc1l1 NPC1 like intracellular cholesterol transporter 1 IAGP RGD PMID:15671032 RGD:1642184 NCBI chr11:6,161,011...6,180,245
Ensembl chr11:6,161,013...6,180,143 		JBrowse link
G Npy neuropeptide Y ISO associated with Obesity;DNA:missense mutation:cds:p.L7P (human) RGD PMID:11689216 RGD:1580177 NCBI chr 6:49,799,690...49,806,487
Ensembl chr 6:49,799,690...49,806,487 		JBrowse link
G Nr4a1 nuclear receptor subfamily 4, group A, member 1 ISO compared to FHH RGD PMID:24722447 RGD:12910103 NCBI chr15:101,151,783...101,172,676
Ensembl chr15:101,152,150...101,172,676 		JBrowse link
G Nr4a3 nuclear receptor subfamily 4, group A, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16005304 NCBI chr 4:48,045,098...48,086,446
Ensembl chr 4:48,045,153...48,086,447 		JBrowse link
G Pappa pregnancy-associated plasma protein A ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:15531533 PMID:14661010 RGD:1642328, RGD:1642329 NCBI chr 4:65,041,993...65,276,776
Ensembl chr 4:65,042,411...65,275,746 		JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypercholesterolemia		 CTD
ClinVar		 PMID:12730697 PMID:16183066 PMID:16571601 PMID:16912035 PMID:17380167 More... 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:16229851 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946 		JBrowse link
G Ppp1r17 protein phosphatase 1, regulatory subunit 17 ISO ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to ClinVar PMID:12955585 NCBI chr 6:55,994,482...56,009,674
Ensembl chr 6:55,994,482...56,009,674 		JBrowse link
G Scap SREBF chaperone ISO protein:increased expression:liver RGD PMID:16741953 RGD:1581819 NCBI chr 9:110,162,356...110,214,017
Ensembl chr 9:110,162,356...110,214,018 		JBrowse link
G Scarb1 scavenger receptor class B, member 1 IMP RGD PMID:15967843 RGD:1580004 NCBI chr 5:125,354,151...125,418,082
Ensembl chr 5:125,354,151...125,418,158 		JBrowse link
G Sele selectin, endothelial cell ISO CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chr 1:163,867,200...163,886,056
Ensembl chr 1:163,875,773...163,885,246 		JBrowse link
G Serpinf2 serine (or cysteine) peptidase inhibitor, clade F, member 2 ISO protein:decreased expression:serum RGD PMID:1384011 RGD:1625534 NCBI chr11:75,322,562...75,330,327
Ensembl chr11:75,322,558...75,330,417 		JBrowse link
G Soat2 sterol O-acyltransferase 2 susceptibility IMP RGD PMID:11100118 RGD:1556516 NCBI chr15:102,058,853...102,071,871
Ensembl chr15:102,058,961...102,071,904 		JBrowse link
G Sqle squalene epoxidase IEP mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271 NCBI chr15:59,186,941...59,203,042
Ensembl chr15:59,186,926...59,203,041 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO protein:altered localization:liver RGD PMID:16741953 RGD:1581819 NCBI chr11:60,089,910...60,113,407
Ensembl chr11:60,089,915...60,113,407 		JBrowse link
G Srebf2 sterol regulatory element binding factor 2 ISO DNA:mutations:exon:p.V623M, p.R645Q (human)
protein:altered localization:liver
DNA:polymorphism: :1784G>C (human)		 RGD PMID:11950857 PMID:16741953 PMID:18095312 PMID:15547298 RGD:1625197, RGD:1581819, RGD:2308813, RGD:1581415 NCBI chr15:82,031,455...82,089,580
Ensembl chr15:82,031,382...82,089,580 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO associated with Carcinoma, Ductal, Breast RGD PMID:15491965 RGD:8655598 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Vldlr very low density lipoprotein receptor IDA RGD PMID:8636110 RGD:1625573 NCBI chr19:27,190,070...27,231,631
Ensembl chr19:27,193,884...27,231,631 		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
IAGP		 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 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 4:134,224,315...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 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 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 Apoa2 apolipoprotein A-II ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 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 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 chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835 		JBrowse link
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar
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 9:21,458,163...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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1		 OMIM
CTD
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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia		 OMIM
ClinVar
CTD		 PMID:7565946 PMID:8504296 PMID:9360502 PMID:11502828 PMID:12910492 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
IAGP		 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: 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: Hypercholesterolemia, familial, 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
OMIM:143890		 OMIM
ClinVar
CTD
MouseDO		 PMID:200368 PMID:251034 PMID:268635 PMID:322919 PMID:322946 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:9536098 PMID:11326085 PMID:12016260 PMID:12464675 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 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 4:106,299,531...106,321,522
Ensembl chr 4:106,299,526...106,321,526 		JBrowse link
G Pon2 paraoxonase 2 ISO DNA:missense mutation:cds:p.S311C (human) 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 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 6:55,994,482...56,009,674
Ensembl chr 6:55,994,482...56,009,674 		JBrowse link
G Rbp4 retinol binding protein 4, plasma disease_progression ISO associated with myocardial infarction; protein:decreased expression:blood serum (human) RGD PMID:24720534 RGD:329845858 NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729 		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 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 3:102,981,330...103,007,038
Ensembl chr 3:102,981,330...103,007,036 		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:1466657 PMID:1493642 PMID:1600334 More... NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835 		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 9:21,634,872...21,661,215
Ensembl chr 9:21,634,779...21,661,215 		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 PMID:30269829 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial hypercholesterolemia 3 | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3		 OMIM
CTD
ClinVar		 PMID:800756 PMID:2120714 PMID:2246507 PMID:9536098 PMID:10357843 More... NCBI chr 4:106,299,531...106,321,522
Ensembl chr 4:106,299,526...106,321,526 		JBrowse link
Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Ti tRNA isoleucine, mitochondrial ISO ClinVar Annotator: match by term: Hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial ClinVar PMID:15498972 PMID:34607911 NCBI chr MT:3,706...3,774
Ensembl chr MT:3,706...3,774 		JBrowse link
sitosterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 susceptibility ISO DNA:missense mutation: p.G583C , 1757G>T (rat)
ClinVar Annotator: match by term: Sitosterolemia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9536098 PMID:11099417 PMID:11138003 PMID:11452359 PMID:11668628 More... RGD:1598659, RGD:631968 NCBI chr17:84,965,602...84,990,439
Ensembl chr17:84,965,662...84,990,439 		JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO
IAGP		 ClinVar Annotator: match by term: Sitosterolemia
OMIM:210250
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:3706300 PMID:4360855 PMID:6110091 PMID:11099417 PMID:11264985 More... RGD:631968, RGD:1300331 NCBI chr17:84,983,730...85,007,761
Ensembl chr17:84,983,730...85,007,761 		JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Sitosterolemia ClinVar PMID:9536098 PMID:11099417 PMID:11138003 PMID:11452359 PMID:11668628 More... NCBI chr17:84,933,903...84,962,996
Ensembl chr17:84,933,924...84,963,016 		JBrowse link
G Lrpprc leucine-rich PPR-motif containing ISO ClinVar Annotator: match by term: Sitosterolemia ClinVar PMID:28492532 NCBI chr17:85,012,675...85,098,214
Ensembl chr17:85,012,675...85,098,217 		JBrowse link
Sitosterolemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: ABCG8-related condition | ClinVar Annotator: match by term: Sitosterolemia 1 ClinVar PMID:11138003 PMID:11668628 PMID:11893785 PMID:16029460 PMID:17228349 More... NCBI chr17:84,965,602...84,990,439
Ensembl chr17:84,965,662...84,990,439 		JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: ABCG8-related condition | ClinVar Annotator: match by term: Sitosterolemia 1 OMIM
ClinVar		 PMID:3706300 PMID:4360855 PMID:6110091 PMID:9536098 PMID:11099417 More... NCBI chr17:84,983,730...85,007,761
Ensembl chr17:84,983,730...85,007,761 		JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Sitosterolemia 1 ClinVar PMID:11138003 PMID:11668628 PMID:16029460 PMID:17228349 PMID:17976197 More... NCBI chr17:84,933,903...84,962,996
Ensembl chr17:84,933,924...84,963,016 		JBrowse link
Sitosterolemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: ABCG5-related condition | ClinVar Annotator: match by term: Sitosterolemia 2 OMIM
ClinVar		 PMID:11099417 PMID:11138003 PMID:11668628 PMID:11893785 PMID:11907139 More... NCBI chr17:84,965,602...84,990,439
Ensembl chr17:84,965,662...84,990,439 		JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: ABCG5-related condition | ClinVar Annotator: match by term: Sitosterolemia 2 ClinVar PMID:11893785 PMID:17632509 PMID:21039838 PMID:21274884 PMID:22898925 More... NCBI chr17:84,983,730...85,007,761
Ensembl chr17:84,983,730...85,007,761 		JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: ABCG5-related condition | ClinVar Annotator: match by term: Sitosterolemia 2 ClinVar PMID:11099417 PMID:11138003 PMID:11668628 PMID:11907139 PMID:15054092 More... NCBI chr17:84,933,903...84,962,996
Ensembl chr17:84,933,924...84,963,016 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Nutritional and Metabolic Diseases 7394
      disease of metabolism 7394
        lipid metabolism disorder 1602
          familial hyperlipidemia 257
            Hypercholesterolemia 117
              Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial 1
              familial hypercholesterolemia + 49
              sitosterolemia + 4
Path 2
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17782
        genetic disease 17756
          inherited metabolic disorder 5665
            lipid metabolism disorder 1602
              Dyslipidemias 287
                familial hyperlipidemia 257
                  Hypercholesterolemia 117
                    Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial 1
                    familial hypercholesterolemia + 49
                    sitosterolemia + 4
paths to the root