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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:familial hyperlipidemia
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Accession:DOID:1168 term browser browse the term
Definition:Conditions with excess LIPIDS in the blood.
Synonyms:exact_synonym: Hyperlipemia;   Hyperlipemias;   Hyperlipidemia;   Lipemia;   Lipemias;   Lipidemia;   Lipidemias;   familial hyperlipoproteinemia
 related_synonym: hyperlipidaemia
 primary_id: MESH:D006949;   RDO:0005832
 xref: ICD10CM:E78.5;   NCI:C34707;   NCI:C34709
For additional species annotation, visit the Alliance of Genome Resources.


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familial hyperlipidemia 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 treatment ISO RGD PMID:17026988, PMID:23185768 RGD:1598533, RGD:21408557 NCBI chrNW_004955419:21,553,863...21,681,626
Ensembl chrNW_004955419:21,553,835...21,681,619
JBrowse link
G Abcb1 ATP binding cassette subfamily B member 1 susceptibility ISO DNA:SNP::2677G>T/A(rs2032582)(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:24502637, PMID:26922556 RGD:11574565 NCBI chrNW_004955432:4,911,774...5,085,349 JBrowse link
G Abcg5 ATP binding cassette subfamily G member 5 susceptibility ISO sitosterolemia;DNA:missense mutation: :p.G583C RGD PMID:16026620 RGD:1598659 NCBI chrNW_004955441:10,964,588...10,987,771
Ensembl chrNW_004955441:10,964,858...10,986,967
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 susceptibility ISO sitosterolemia;DNA:missense mutation, nonsense mutation: :p.G574A, 1083G>A RGD PMID:12671028 RGD:1601097 NCBI chrNW_004955441:10,982,307...11,004,789
Ensembl chrNW_004955441:10,982,307...11,009,116
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing treatment ISO RGD PMID:24308182 RGD:8695929 NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16027735 NCBI chrNW_004955415:5,515,157...5,517,198
Ensembl chrNW_004955415:5,515,697...5,516,980
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16027735 NCBI chrNW_004955463:13,663,064...13,665,553 JBrowse link
G Alb albumin ISO DNA:mutation RGD PMID:6468510 RGD:1601160 NCBI chrNW_004955447:9,327...21,212 JBrowse link
G Angptl4 angiopoietin like 4 ISO RGD PMID:12401877, PMID:15837923 RGD:1578349, RGD:1625354 NCBI chrNW_004955563:1,024,163...1,030,816
Ensembl chrNW_004955563:1,021,414...1,029,894
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:17546600 NCBI chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832
JBrowse link
G Apob apolipoprotein B treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:7627691, PMID:15716585, PMID:17658632 RGD:14401726, RGD:1578419 NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424
JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO RGD PMID:11116209 RGD:1626277 NCBI chrNW_004955413:6,471,933...6,480,475
Ensembl chrNW_004955413:6,471,953...6,480,469
JBrowse link
G Apoc2 apolipoprotein C2 susceptibility ISO RGD PMID:1782747 RGD:1599175 NCBI chrNW_004955555:2,019,547...2,021,543
Ensembl chrNW_004955555:2,016,217...2,021,830
JBrowse link
G Apoc3 apolipoprotein C3 treatment ISO RGD PMID:23542898 RGD:10054091 NCBI chrNW_004955412:18,165,667...18,168,015
Ensembl chrNW_004955412:18,165,667...18,168,015
JBrowse link
G Apoe apolipoprotein E treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11947894, PMID:12871831, PMID:20530721, PMID:20937366, PMID:22762542, PMID:29459263 RGD:13703129, RGD:6903856 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888
JBrowse link
G Bche butyrylcholinesterase ISO protein:increased expression:serum RGD PMID:15219807 RGD:1601321 NCBI chrNW_004955448:15,327,374...15,396,827
Ensembl chrNW_004955448:15,329,273...15,396,970
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:21485068 RGD:5490594 NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:plasma RGD PMID:8914465 RGD:11060253 NCBI chrNW_004955423:254,060...264,448
Ensembl chrNW_004955423:254,189...264,159
JBrowse link
G F7 coagulation factor VII ISO protein:increased expression:plasma (rat) RGD PMID:11776312 RGD:2312300 NCBI chrNW_004955404:685,170...692,797
Ensembl chrNW_004955404:680,594...693,665
JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:69995 NCBI chrNW_004955449:11,708,152...11,716,429
Ensembl chrNW_004955449:11,708,152...11,716,429
JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO mRNA:increased expression:gastrocnemius RGD PMID:16555472 RGD:1624365 NCBI chrNW_004955424:15,692,088...15,739,894
Ensembl chrNW_004955424:15,692,088...15,739,894
JBrowse link
G Gnb3 G protein subunit beta 3 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :825C>T (human) RGD PMID:17161225 RGD:2313205 NCBI chrNW_004955413:4,440,693...4,447,419
Ensembl chrNW_004955413:4,440,693...4,447,416
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO mRNA,protein:increased expression:islet cells:diabetic but not prediabetic Zucker Diabetic Fatty (fa/fa) rats RGD PMID:14697232 RGD:1625074 NCBI chrNW_004955489:2,500,928...2,524,715
Ensembl chrNW_004955489:2,497,680...2,524,805
JBrowse link
G Irs1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10591678 NCBI chrNW_004955453:7,685,715...7,742,262
Ensembl chrNW_004955453:7,685,715...7,742,262
JBrowse link
G Kl klotho ISO RGD PMID:10892340 RGD:1581732 NCBI chrNW_004955431:12,782,913...12,833,215
Ensembl chrNW_004955431:12,782,846...12,833,215
JBrowse link
G Lcat lecithin-cholesterol acyltransferase ISO RGD PMID:12935429 RGD:1581787 NCBI chrNW_004955484:8,772,692...8,776,122
Ensembl chrNW_004955484:8,772,692...8,776,122
JBrowse link
G Ldlr low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11947894, PMID:25619500 NCBI chrNW_004955495:2,114,702...2,135,584
Ensembl chrNW_004955495:2,114,434...2,138,056
JBrowse link
G Lep leptin ISO mRNA:decreased expression:liver, adipose tissue (rat) RGD PMID:17671736 RGD:10053616 NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25222487 NCBI chrNW_004955423:25,108,897...25,185,315
Ensembl chrNW_004955423:25,111,266...25,185,407
JBrowse link
G Lipc lipase C, hepatic type ISO protein:reduced expression:plasma (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:1883393, PMID:12935429 RGD:1581787 NCBI chrNW_004955450:15,947,869...16,062,449
Ensembl chrNW_004955450:15,948,187...16,048,766
JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20199424 NCBI chrNW_004955419:1,782,566...1,857,375
Ensembl chrNW_004955419:1,782,566...1,857,375
JBrowse link
G LOC102026028 cytochrome P450 2E1 ISO RGD PMID:23002367 RGD:14700877 NCBI chrNW_004955507:6,293,162...6,303,255
Ensembl chrNW_004955507:6,289,576...6,304,193
JBrowse link
G Lpl lipoprotein lipase treatment ISO ClinVar Annotator: match by term: Hyperlipidemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1598907, PMID:9920508, PMID:17658632, PMID:29931882, PMID:30311386 RGD:13794383, RGD:1556571 NCBI chrNW_004955403:43,646,084...43,672,116
Ensembl chrNW_004955403:43,646,084...43,673,967
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO associated with Diabetes Mellitus, Type 2 RGD PMID:16490430 RGD:1642030 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Mttp microsomal triglyceride transfer protein ISO RGD PMID:12191589 RGD:1625489 NCBI chrNW_004955496:7,963,323...8,022,393
Ensembl chrNW_004955496:7,963,262...8,009,838
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Hyperlipidemia ClinVar PMID:18533079, PMID:20800588, PMID:23140321, PMID:24033266, PMID:24093860, PMID:25740977, PMID:25741868, PMID:27600940, PMID:30311386 NCBI chrNW_004955422:888,529...902,074
Ensembl chrNW_004955422:888,589...901,725
JBrowse link
G Neil1 nei like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21285402 NCBI chrNW_004955450:2,883,344...2,889,593
Ensembl chrNW_004955450:2,883,560...2,887,736
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism
protein:increased phosphorylation:aorta
CTD
RGD
PMID:11457755, PMID:17895290 RGD:2292129 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
JBrowse link
G Plau plasminogen activator, urokinase ISO associated with Venous Thrombosis; protein:increased expression:wall of vein, thrombus (mouse) RGD PMID:22119245 RGD:6903200 NCBI chrNW_004955437:17,995,726...18,000,542
Ensembl chrNW_004955437:17,994,537...18,000,209
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: therapeutic CTD PMID:21640707 NCBI chrNW_004955413:30,306,563...30,366,245
Ensembl chrNW_004955413:30,307,219...30,359,500
JBrowse link
G Ppargc1b PPARG coactivator 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17932310 NCBI chrNW_004955415:4,638,057...4,756,885
Ensembl chrNW_004955415:4,644,998...4,757,093
JBrowse link
G Rgn regucalcin ISO RGD PMID:15375596 RGD:9590273 NCBI chrNW_004955516:958,416...978,829
Ensembl chrNW_004955516:955,680...978,910
JBrowse link
G Sdc1 syndecan 1 ISO RGD PMID:17403197 RGD:1643125 NCBI chrNW_004955469:2,762,696...2,773,697 JBrowse link
G Serpinc1 serpin family C member 1 ISO protein:increased expression:plasma RGD PMID:17283885 RGD:11035268 NCBI chrNW_004955406:14,024,183...14,036,206
Ensembl chrNW_004955406:14,024,313...14,035,948
JBrowse link
G Serpinf2 serpin family F member 2 ISO RGD PMID:2313941 RGD:1625536 NCBI chrNW_004955481:1,441,262...1,449,078
Ensembl chrNW_004955481:1,442,010...1,449,242
JBrowse link
G Shc1 SHC adaptor protein 1 ISO RGD PMID:15044008 RGD:1643177 NCBI chrNW_004955545:1,468,391...1,479,209
Ensembl chrNW_004955545:1,468,391...1,476,814
JBrowse link
G Slc27a1 solute carrier family 27 member 1 ISO protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle RGD PMID:15281014 RGD:1642794 NCBI chrNW_004955524:803,793...821,920
Ensembl chrNW_004955524:805,014...821,838
JBrowse link
G Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 ISO mRNA:decreased expression:thoracic aorta RGD PMID:24615205 RGD:9586357 NCBI chrNW_004955547:659,919...673,637
Ensembl chrNW_004955547:659,984...674,705
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:increased expression:plasma: RGD PMID:8914465 RGD:11060253 NCBI chrNW_004955403:10,925,155...11,004,229
Ensembl chrNW_004955403:10,924,893...11,004,284
JBrowse link
G Tgfb1 transforming growth factor beta 1 treatment ISO associated with Chronic Kidney Failure;mRNA:increased expression:kidney
associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney cortex
RGD PMID:16834981, PMID:19001732 RGD:1601559, RGD:2306735 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO RGD PMID:18159007 RGD:2313110 NCBI chrNW_004955435:5,390,745...5,410,025
Ensembl chrNW_004955435:5,390,751...5,411,691
JBrowse link
G Vldlr very low density lipoprotein receptor ISO RGD PMID:10985956 RGD:1625570 NCBI chrNW_004955434:7,013,092...7,050,103
Ensembl chrNW_004955434:7,013,092...7,050,103
JBrowse link
apolipoprotein C-III deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoc3 apolipoprotein C3 ISO OMIM NCBI chrNW_004955412:18,165,667...18,168,015
Ensembl chrNW_004955412:18,165,667...18,168,015
JBrowse link
autosomal recessive hypercholesterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO OMIM NCBI chrNW_004955452:5,081,919...5,102,349
Ensembl chrNW_004955452:5,081,556...5,095,182
JBrowse link
Broad-Betalipoproteinemia 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: Broad beta disease ClinVar PMID:2992507, PMID:3243553, PMID:6300187, PMID:9649566, PMID:16103896, PMID:16143024, PMID:17289397, PMID:19667110, PMID:20031551, PMID:20031582, PMID:22992668, PMID:25741868 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888
JBrowse link
familial apolipoprotein A5 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 ISO OMIM NCBI chrNW_004955412:18,128,861...18,131,752
Ensembl chrNW_004955412:18,129,603...18,131,115
JBrowse link
familial apolipoprotein C-II deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoc2 apolipoprotein C2 ISO OMIM NCBI chrNW_004955555:2,019,547...2,021,543
Ensembl chrNW_004955555:2,016,217...2,021,830
JBrowse link
familial combined hyperlipidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add1 adducin 1 ISO DNA:polymorphism: :p.Gly460Trp (human) RGD PMID:11775124 RGD:1559299 NCBI chrNW_004955514:1,784,302...1,812,845
Ensembl chrNW_004955514:1,783,814...1,815,917
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO RGD PMID:16336518 RGD:1601173 NCBI chrNW_004955452:1,820,212...1,873,877
Ensembl chrNW_004955452:1,820,174...1,874,226
JBrowse link
G Apoa2 apolipoprotein A2 ISO protein:increased expression:plasma: RGD PMID:12738753 RGD:1300287 NCBI chrNW_004955468:12,977,956...12,979,282
Ensembl chrNW_004955468:12,977,956...12,979,753
JBrowse link
G Apob apolipoprotein B ISO protein:increased expression:plasma
ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb
RGD
ClinVar
PMID:221546, PMID:1360085, PMID:1431583, PMID:1454832, PMID:1466657, PMID:1493642, PMID:1600334, PMID:1793440, PMID:1977310, PMID:2280177, PMID:2375782, PMID:2563166, PMID:3399894, PMID:3473077, PMID:3477815, PMID:3771801, PMID:7627691, PMID:7670940, PMID:7883971, PMID:8141833, PMID:8254047, PMID:8318509, PMID:8318993, PMID:8371062, PMID:8468533, PMID:8478017, PMID:8723684, PMID:8831935, PMID:8889592, PMID:8931699, PMID:8960785, PMID:9081691, PMID:9104431, PMID:9105560, PMID:9191540, PMID:9254062, PMID:9259199, PMID:9339363, PMID:9486979, PMID:9490296, PMID:9568749, PMID:9603795, PMID:9654205, PMID:9702952, PMID:9925662, PMID:10208479, PMID:10388479, PMID:10529757, PMID:10735632, PMID:10952765, PMID:11031227, PMID:11115503, PMID:11137107, PMID:11238294, PMID:11494965, PMID:11781700, PMID:11810272, PMID:11833852, PMID:11941481, PMID:12655413, PMID:14732481, PMID:15135245, PMID:15797858, PMID:15805152, PMID:16250003, PMID:16797745, PMID:17046772, PMID:17087781, PMID:17142622, PMID:17160438, PMID:17539906, PMID:17570373, PMID:17588943, PMID:17595251, PMID:17765246, PMID:17964958, PMID:17968143, PMID:18022922, PMID:18028451, PMID:18096825, PMID:18160469, PMID:18222178, PMID:18258526, PMID:18279815, PMID:18325181, PMID:18355452, PMID:18492086, PMID:18700895, PMID:18710658, PMID:19602640, PMID:20032471, PMID:20145306, PMID:20167924, PMID:20236128, PMID:20506408, PMID:20538126, PMID:20592474, PMID:20657596, PMID:20736250, PMID:20809525, PMID:20828696, PMID:21059979, PMID:21310417, PMID:21376320, PMID:21382890, PMID:21408211, PMID:21520333, PMID:21657943, PMID:21722902, PMID:21862702, PMID:21868016, PMID:21919778, PMID:22095935, PMID:22244043, PMID:22256951, PMID:22294733, PMID:22353362, PMID:22408029, PMID:22534770, PMID:22698793, PMID:22855658, PMID:22883975, PMID:22923420, PMID:23054246, PMID:23064986, PMID:23130880, PMID:23375686, PMID:23593297, PMID:23680767, PMID:23685560, PMID:23775634, PMID:23833242, PMID:23936638, PMID:24033266, PMID:24106285, PMID:24234650, PMID:24404629, PMID:24498611, PMID:24503134, PMID:24507774, PMID:24507775, PMID:24607922, PMID:24784157, PMID:24956927, PMID:24987033, PMID:25461735, PMID:25741868, PMID:26020417, PMID:26036859, PMID:26064709, PMID:26332594, PMID:26415676, PMID:26467025, PMID:26636822, PMID:26643808, PMID:26666465, PMID:26802169, PMID:27153395, PMID:27206935, PMID:27497240, PMID:27578127, PMID:27654142, PMID:27765764, PMID:27783906, PMID:27884173, PMID:27919364, PMID:27932355, PMID:28008009, PMID:28428224, PMID:28431867, PMID:28475941, PMID:28492532, PMID:28895539, PMID:28958330, PMID:28965616, PMID:29036232, PMID:29261184, PMID:29572815, PMID:29598884, PMID:30056620, PMID:30122538, PMID:30270084, PMID:30311386, PMID:30526649, PMID:30842500, PMID:31345425 RGD:1601200 NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424
JBrowse link
G Apoc3 apolipoprotein C3 no_association ISO DNA:haplotype, snp:3' utr:g.3175G>C (human) RGD PMID:9062353, PMID:9812922, PMID:15863838 RGD:1601225, RGD:5685674, RGD:5685676 NCBI chrNW_004955412:18,165,667...18,168,015
Ensembl chrNW_004955412:18,165,667...18,168,015
JBrowse link
G Apoe apolipoprotein E ISO DNA:missense mutations, haplotype:cds:p.C112R, p.R158C (human) RGD PMID:12915220, PMID:17127808 RGD:1578481, RGD:1601231 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888
JBrowse link
G Faslg Fas ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:15063428 NCBI chrNW_004955406:13,098,479...13,107,045
Ensembl chrNW_004955406:13,098,662...13,107,389
JBrowse link
G Hnf4a hepatocyte nuclear factor 4 alpha ISO DNA:haplotype: :rs6031558,rs745975, rs3212198(human) RGD PMID:18340007 RGD:12904697 NCBI chrNW_004955445:12,925,248...12,962,501
Ensembl chrNW_004955445:12,924,662...12,984,281
JBrowse link
G Lipc lipase C, hepatic type ISO RGD PMID:16338252 RGD:1580512 NCBI chrNW_004955450:15,947,869...16,062,449
Ensembl chrNW_004955450:15,948,187...16,048,766
JBrowse link
G Lpl lipoprotein lipase ISO OMIM NCBI chrNW_004955403:43,646,084...43,672,116
Ensembl chrNW_004955403:43,646,084...43,673,967
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma: RGD PMID:18417194 RGD:13207412 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:15262191 RGD:1601645 NCBI chrNW_004955415:30,222,830...30,226,406 JBrowse link
G Usf1 upstream transcription factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to
CTD
ClinVar
PMID:14991056, PMID:16076849 NCBI chrNW_004955468:12,814,810...12,821,383
Ensembl chrNW_004955468:12,814,810...12,821,383
JBrowse link
G Vwf von Willebrand factor ISO protein:increased expression:plasma: RGD PMID:18417194 RGD:13207412 NCBI chrNW_004955413:3,672,470...3,825,588
Ensembl chrNW_004955413:3,672,470...3,819,571
JBrowse link
familial GPIHBP1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ISO OMIM NCBI chrNW_004955454:1,965,627...1,972,479 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: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar PMID:19743957, PMID:20800056, PMID:24497850, PMID:25215231, PMID:25741868 NCBI chrNW_004955419:21,553,863...21,681,626
Ensembl chrNW_004955419:21,553,835...21,681,619
JBrowse link
G Apoa2 apolipoprotein A2 ISO OMIM NCBI chrNW_004955468:12,977,956...12,979,282
Ensembl chrNW_004955468:12,977,956...12,979,753
JBrowse link
G Apob apolipoprotein B ISO DNA:deletion:promoter, exon:
ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: Familial hypercholesterolemias
RGD
ClinVar
PMID:221546, PMID:1360085, PMID:1424233, PMID:1454832, PMID:1466657, PMID:1493642, PMID:1600334, PMID:1793440, PMID:1933004, PMID:1977310, PMID:2280177, PMID:2375782, PMID:2563166, PMID:2574033, PMID:2725600, PMID:2843815, PMID:2903181, PMID:3477815, PMID:3627182, PMID:3771801, PMID:7627691, PMID:7670940, PMID:7883971, PMID:8141833, PMID:8254047, PMID:8318509, PMID:8318993, PMID:8371062, PMID:8468533, PMID:8478017, PMID:8723684, PMID:8831935, PMID:8889592, PMID:8931699, PMID:8960785, PMID:9081691, PMID:9104431, PMID:9105560, PMID:9191540, PMID:9254062, PMID:9259199, PMID:9339363, PMID:9486979, PMID:9490296, PMID:9568749, PMID:9603795, PMID:9654205, PMID:9702952, PMID:9925662, PMID:10208479, PMID:10388479, PMID:10529757, PMID:10735632, PMID:10952765, PMID:11031227, PMID:11115503, PMID:11137107, PMID:11238294, PMID:11494965, PMID:11781700, PMID:11810272, PMID:11833852, PMID:11941481, PMID:12031600, PMID:14732481, PMID:15135245, PMID:15308601, PMID:15797858, PMID:15805152, PMID:16250003, PMID:17046772, PMID:17087781, PMID:17142622, PMID:17160438, PMID:17539906, PMID:17570373, PMID:17588943, PMID:17595251, PMID:17765246, PMID:17964958, PMID:17968143, PMID:18022922, PMID:18028451, PMID:18096825, PMID:18160469, PMID:18222178, PMID:18258526, PMID:18279815, PMID:18325181, PMID:18355452, PMID:18492086, PMID:18700895, PMID:18710658, PMID:19602640, PMID:20032471, PMID:20145306, PMID:20167924, PMID:20236128, PMID:20506408, PMID:20538126, PMID:20592474, PMID:20657596, PMID:20736250, PMID:20809525, PMID:20828696, PMID:21059979, PMID:21310417, PMID:21376320, PMID:21382890, PMID:21408211, PMID:21520333, PMID:21600525, PMID:21600530, PMID:21657943, PMID:21722902, PMID:21862702, PMID:21868016, PMID:21919778, PMID:22095935, PMID:22244043, PMID:22256951, PMID:22294733, PMID:22353362, PMID:22408029, PMID:22534770, PMID:22698793, PMID:22883975, PMID:22923420, PMID:23054246, PMID:23064986, PMID:23130880, PMID:23375686, PMID:23593297, PMID:23680767, PMID:23685560, PMID:23775634, PMID:23833242, PMID:23936638, PMID:23956253, PMID:24033266, PMID:24106285, PMID:24234650, PMID:24404629, PMID:24498611, PMID:24503134, PMID:24507774, PMID:24507775, PMID:24585268, PMID:24607922, PMID:24784157, PMID:24956927, PMID:24987033, PMID:25461735, PMID:25741868, PMID:25741869, PMID:26020417, PMID:26036859, PMID:26064709, PMID:26332594, PMID:26415676, PMID:26467025, PMID:26636822, PMID:26643808, PMID:26666465, PMID:26802169, PMID:27153395, PMID:27206935, PMID:27497240, PMID:27578127, PMID:27654142, PMID:27765764, PMID:27783906, PMID:27884173, PMID:27919364, PMID:27932355, PMID:28008009, PMID:28428224, PMID:28431867, PMID:28475941, PMID:28492532, PMID:28895539, PMID:28958330, PMID:28965616, PMID:29036232, PMID:29261184, PMID:29572815, PMID:29598884, PMID:30056620, PMID:30076208, PMID:30122538, PMID:30270084, PMID:30311386, PMID:30526649, PMID:30842500, PMID:31345425 RGD:11527221 NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424
JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:14756670, PMID:17094996, PMID:19538517, PMID:20045108, PMID:22698793, PMID:25741868 NCBI chrNW_004955495:2,174,802...2,216,424
Ensembl chrNW_004955495:2,174,966...2,216,423
JBrowse link
G Ephx2 epoxide hydrolase 2 ISO OMIM NCBI chrNW_004955403:49,999,563...50,038,800
Ensembl chrNW_004955403:49,999,563...50,041,572
JBrowse link
G Ghr growth hormone receptor ISO OMIM NCBI chrNW_004955426:26,553,509...26,873,619
Ensembl chrNW_004955426:26,689,581...26,871,684
JBrowse link
G Gk glycerol kinase ISO RGD PMID:10642898 RGD:13702898 NCBI chrNW_004955531:106,761...183,347 JBrowse link
G Ldlr low density lipoprotein receptor ISO OMIM NCBI chrNW_004955495:2,114,702...2,135,584
Ensembl chrNW_004955495:2,114,434...2,138,056
JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004955452:5,081,919...5,102,349
Ensembl chrNW_004955452:5,081,556...5,095,182
JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Familial hypercholesterolemias
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar PMID:10357843, PMID:10764678, PMID:11668641, PMID:12175777, PMID:12730697, PMID:14727156, PMID:14727179, PMID:15099351, PMID:15166014, PMID:15358785, PMID:15654334, PMID:15772090, PMID:15893176, PMID:16183066, PMID:16211558, PMID:16224054, PMID:16424354, PMID:16465619, PMID:16554528, PMID:16571601, PMID:16777760, PMID:16909389, PMID:16912035, PMID:17094996, PMID:17140581, PMID:17170371, PMID:17316651, PMID:17461796, PMID:17502126, PMID:17765244, PMID:17804797, PMID:17971861, PMID:18028451, PMID:18197702, PMID:18250299, PMID:18262190, PMID:18266662, PMID:18300938, PMID:18354102, PMID:18436227, PMID:18559913, PMID:18631360, PMID:18710658, PMID:18718593, PMID:18799458, PMID:19001363, PMID:19022446, PMID:19081568, PMID:19191301, PMID:19351729, PMID:19797716, PMID:19917273, PMID:20006333, PMID:20031607, PMID:20172854, PMID:20538126, PMID:20579540, PMID:20959675, PMID:21146822, PMID:21376320, PMID:21943799, PMID:22095935, PMID:22344438, PMID:22417841, PMID:22683120, PMID:22875854, PMID:22923420, PMID:22995991, PMID:23064986, PMID:23105118, PMID:23375686, PMID:23386946, PMID:23535506, PMID:23663650, PMID:23680767, PMID:23743349, PMID:23935525, PMID:23997648, PMID:24033266, PMID:24115837, PMID:24278757, PMID:24507774, PMID:24507775, PMID:24607922, PMID:24785115, PMID:24793346, PMID:24808179, PMID:24859021, PMID:25014035, PMID:25046268, PMID:25278291, PMID:25412415, PMID:25525159, PMID:25600226, PMID:25741868, PMID:25744035, PMID:25904937, PMID:25962062, PMID:26020417, PMID:26036859, PMID:26049403, PMID:26195630, PMID:26332594, PMID:26374825, PMID:26467025, PMID:26541928, PMID:26546829, PMID:26632531, PMID:26636822, PMID:26802169, PMID:26937405, PMID:27050191, PMID:27135400, PMID:27206942, PMID:27218270, PMID:27280970, PMID:27516387, PMID:27765764, PMID:27896130, PMID:27919364, PMID:27998977, PMID:28008010, PMID:28179607, PMID:28302345, PMID:28323660, PMID:28349888, PMID:28360401, PMID:28438747, PMID:28492532, PMID:28587771, PMID:28768753, PMID:28777095, PMID:28965616, PMID:29036232, PMID:29083407, PMID:29127338, PMID:29259136, PMID:29261184, PMID:29399563, PMID:29438441, PMID:29459468, PMID:29593013, PMID:29982529, PMID:29997226, PMID:30779729, PMID:31106297, PMID:31386798 NCBI chrNW_004955464:4,424,583...4,439,805
Ensembl chrNW_004955464:4,425,435...4,439,842
JBrowse link
G Pon2 paraoxonase 2 ISO DNA:missense mutation:cds:p.S311C (human) RGD PMID:16776623 RGD:1642625 NCBI chrNW_004955432:11,988,009...12,020,702
Ensembl chrNW_004955432:11,987,919...12,020,740
JBrowse link
G Ppp1r17 protein phosphatase 1 regulatory subunit 17 ISO OMIM NCBI chrNW_004955410:32,720,954...32,737,676
Ensembl chrNW_004955410:32,720,889...32,737,695
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:serum: RGD PMID:19004443 RGD:13207334 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
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 PMID:1998642, PMID:25741868 NCBI chrNW_004955495:2,021,671...2,105,155
Ensembl chrNW_004955495:2,021,566...2,105,397
JBrowse link
G Stap1 signal transducing adaptor family member 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:26036859 NCBI chrNW_004955447:5,292,708...5,345,214
Ensembl chrNW_004955447:5,293,227...5,330,187
JBrowse link
Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B
ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE
ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE
ClinVar PMID:221546, PMID:1360085, PMID:1431583, PMID:1454832, PMID:1466657, PMID:1493642, PMID:1600334, PMID:1793440, PMID:1977310, PMID:2280177, PMID:2375782, PMID:2563166, PMID:3399894, PMID:3473077, PMID:3477815, PMID:3771801, PMID:7627691, PMID:7670940, PMID:7883971, PMID:8141833, PMID:8254047, PMID:8318509, PMID:8318993, PMID:8371062, PMID:8468533, PMID:8478017, PMID:8723684, PMID:8831935, PMID:8889592, PMID:8931699, PMID:8960785, PMID:9081691, PMID:9104431, PMID:9105560, PMID:9191540, PMID:9254062, PMID:9259199, PMID:9339363, PMID:9486979, PMID:9490296, PMID:9568749, PMID:9603795, PMID:9654205, PMID:9702952, PMID:9925662, PMID:10208479, PMID:10388479, PMID:10529757, PMID:10735632, PMID:10952765, PMID:11031227, PMID:11115503, PMID:11137107, PMID:11238294, PMID:11494965, PMID:11781700, PMID:11810272, PMID:11833852, PMID:11941481, PMID:12655413, PMID:14732481, PMID:15135245, PMID:15797858, PMID:15805152, PMID:16250003, PMID:17046772, PMID:17087781, PMID:17142622, PMID:17160438, PMID:17539906, PMID:17570373, PMID:17588943, PMID:17595251, PMID:17765246, PMID:17964958, PMID:17968143, PMID:18022922, PMID:18028451, PMID:18096825, PMID:18160469, PMID:18222178, PMID:18258526, PMID:18279815, PMID:18325181, PMID:18355452, PMID:18492086, PMID:18700895, PMID:18710658, PMID:19602640, PMID:20032471, PMID:20145306, PMID:20167924, PMID:20236128, PMID:20506408, PMID:20538126, PMID:20592474, PMID:20657596, PMID:20736250, PMID:20809525, PMID:20828696, PMID:21059979, PMID:21310417, PMID:21376320, PMID:21382890, PMID:21408211, PMID:21520333, PMID:21657943, PMID:21722902, PMID:21862702, PMID:21868016, PMID:21919778, PMID:22095935, PMID:22244043, PMID:22256951, PMID:22294733, PMID:22353362, PMID:22408029, PMID:22534770, PMID:22698793, PMID:22855658, PMID:22883975, PMID:22923420, PMID:23054246, PMID:23064986, PMID:23130880, PMID:23375686, PMID:23593297, PMID:23680767, PMID:23685560, PMID:23775634, PMID:23833242, PMID:23936638, PMID:24033266, PMID:24106285, PMID:24234650, PMID:24404629, PMID:24498611, PMID:24503134, PMID:24507774, PMID:24507775, PMID:24607922, PMID:24784157, PMID:24956927, PMID:24987033, PMID:25461735, PMID:25741868, PMID:26020417, PMID:26036859, PMID:26064709, PMID:26332594, PMID:26415676, PMID:26467025, PMID:26636822, PMID:26643808, PMID:26666465, PMID:26802169, PMID:27153395, PMID:27206935, PMID:27497240, PMID:27578127, PMID:27654142, PMID:27765764, PMID:27783906, PMID:27884173, PMID:27919364, PMID:27932355, PMID:28008009, PMID:28428224, PMID:28431867, PMID:28475941, PMID:28492532, PMID:28895539, PMID:28958330, PMID:28965616, PMID:29036232, PMID:29261184, PMID:29572815, PMID:29598884, PMID:30056620, PMID:30122538, PMID:30270084, PMID:30311386, PMID:30526649, PMID:30842500, PMID:31345425 NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424
JBrowse link
Familial Hyperchylomicronemia Syndrome 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: Hyperlipoproteinemia type 1 ClinVar PMID:1562620, PMID:1576758, PMID:1598907, PMID:1731801, PMID:1737848, PMID:1907278, PMID:10735636, PMID:16174715, PMID:23246289, PMID:25741868, PMID:30311386 NCBI chrNW_004955403:43,646,084...43,672,116
Ensembl chrNW_004955403:43,646,084...43,673,967
JBrowse link
familial lipase maturation factor 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmf1 lipase maturation factor 1 ISO OMIM NCBI chrNW_004955442:16,250,131...16,360,907
Ensembl chrNW_004955442:16,245,081...16,360,846
JBrowse link
familial lipoprotein lipase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 ISO ClinVar Annotator: match by term: Hyperlipoproteinemia, type I ClinVar PMID:25741868 NCBI chrNW_004955412:18,128,861...18,131,752
Ensembl chrNW_004955412:18,129,603...18,131,115
JBrowse link
G Apoc2 apolipoprotein C2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: C-II ANAPOLIPOPROTEINEMIA
ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE IB
CTD
ClinVar
PMID:213719, PMID:1349286, PMID:1628605, PMID:1782747, PMID:1971748, PMID:2477392, PMID:2592354, PMID:3192518, PMID:3225819, PMID:3263393, PMID:3467353, PMID:3680515, PMID:3944267, PMID:3944271, PMID:7815420, PMID:7923858, PMID:8323539, PMID:8490626, PMID:12783430, PMID:25741868, PMID:28492532 NCBI chrNW_004955555:2,019,547...2,021,543
Ensembl chrNW_004955555:2,016,217...2,021,830
JBrowse link
G Lpl lipoprotein lipase ISO OMIM NCBI chrNW_004955403:43,646,084...43,672,116
Ensembl chrNW_004955403:43,646,084...43,673,967
JBrowse link
glycogen storage disease IXa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO OMIM NCBI chrNW_004955586:482,353...549,512
Ensembl chrNW_004955586:482,353...552,616
JBrowse link
glycogen storage disease IXb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phkb phosphorylase kinase regulatory subunit beta ISO OMIM NCBI chrNW_004955474:7,599,657...7,801,083
Ensembl chrNW_004955474:7,598,463...7,801,083
JBrowse link
glycogen storage disease IXc term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phkg2 phosphorylase kinase catalytic subunit gamma 2 ISO OMIM NCBI chrNW_004955493:7,612,251...7,622,486
Ensembl chrNW_004955493:7,612,251...7,622,486
JBrowse link
glycogen storage disease IXd term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO OMIM NCBI chrNW_004955475:12,020,278...12,172,427
Ensembl chrNW_004955475:12,020,629...12,172,443
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:1400331, PMID:1479292, PMID:1505655, PMID:1511985, PMID:1674945, PMID:1702428, PMID:1752947, PMID:1872917, PMID:1969408, PMID:1975597, PMID:2038366, PMID:2394828, PMID:2914262, PMID:6645961, PMID:7647785, PMID:7906986, PMID:8099055, PMID:8541837, PMID:9401010, PMID:11334614, PMID:11893776, PMID:15877202, PMID:16972177, PMID:17717288, PMID:18068174, PMID:18350203, PMID:21159338, PMID:22095987, PMID:22239554, PMID:23484243, PMID:25741868, PMID:25966443, PMID:27055971, PMID:27573733, PMID:28267856, PMID:28438574, PMID:28492532, PMID:29153744, PMID:29288010 NCBI chrNW_004955403:43,646,084...43,672,116
Ensembl chrNW_004955403:43,646,084...43,673,967
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha susceptibility ISO ClinVar Annotator: match by term: Hyperapobetalipoproteinemia, susceptibility to OMIM
ClinVar
PMID:10828087, PMID:12006394, PMID:15309680 NCBI chrNW_004955413:30,306,563...30,366,245
Ensembl chrNW_004955413:30,307,219...30,359,500
JBrowse link
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 mRNA:increased expression:liver, jejunum (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:22022523, PMID:24619822 RGD:19165129 NCBI chrNW_004955419:21,553,863...21,681,626
Ensembl chrNW_004955419:21,553,835...21,681,619
JBrowse link
G Abcb11 ATP binding cassette subfamily B member 11 ISO RGD PMID:21726512 RGD:14688050 NCBI chrNW_004955449:5,412,958...5,511,629
Ensembl chrNW_004955449:5,412,876...5,512,701
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO DNA:polymorphism: :p.M429V RGD PMID:15816807 RGD:1601094 NCBI chrNW_004955441:10,982,307...11,004,789
Ensembl chrNW_004955441:10,982,307...11,009,116
JBrowse link
G Acat2 acetyl-CoA acetyltransferase 2 ISO RGD PMID:11100118 RGD:1556516 NCBI chrNW_004955439:21,123,886...21,142,562
Ensembl chrNW_004955439:21,122,923...21,142,480
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO RGD PMID:17403193 RGD:1601171 NCBI chrNW_004955452:1,820,212...1,873,877
Ensembl chrNW_004955452:1,820,174...1,874,226
JBrowse link
G Apoa1 apolipoprotein A1 ISO DNA:polymorphisms: :-75G>A, 83C>T (human) RGD PMID:16309370 RGD:1601184 NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298
JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Hypercholesterolemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1600334, PMID:16581047, PMID:24033266, PMID:25741868, PMID:26415676, PMID:26467025, PMID:27578127, PMID:28492532 RGD:1599167 NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424
JBrowse link
G Apoc2 apolipoprotein C2 susceptibility ISO associated with Hypertriglyceridemia;DNA:missense mutation: :p.K38Q (human) RGD PMID:8490626 RGD:1601207 NCBI chrNW_004955555:2,019,547...2,021,543
Ensembl chrNW_004955555:2,016,217...2,021,830
JBrowse link
G Apoc3 apolipoprotein C3 ISO RGD PMID:2879788 RGD:1578447 NCBI chrNW_004955412:18,165,667...18,168,015
Ensembl chrNW_004955412:18,165,667...18,168,015
JBrowse link
G Apoe apolipoprotein E severity
susceptibility
ISO 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)
DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human)
RGD
ClinVar
CTD
PMID:1411543, PMID:2987927, PMID:2992507, PMID:3243553, PMID:3922972, PMID:6300187, PMID:7263700, PMID:8346443, PMID:8618665, PMID:8644717, PMID:9343467, PMID:9649566, PMID:9932938, PMID:10213549, PMID:10799751, PMID:11397713, PMID:11835377, PMID:11940689, PMID:11940706, PMID:14741101, PMID:15048896, PMID:15184602, PMID:15326261, PMID:15557508, PMID:15668424, PMID:16103896, PMID:16143024, PMID:17217375, PMID:17289397, PMID:19605830, PMID:19667110, PMID:20031551, PMID:20031582, PMID:21043830, PMID:21357213, PMID:22022523, PMID:22228805, PMID:22381401, PMID:22992668, PMID:23060451, PMID:23296339, PMID:23571587, PMID:24033266, PMID:25741868, PMID:27260402, PMID:28808185, PMID:30311386 RGD:13703132, RGD:1601229, RGD:6903838, RGD:734968 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888
JBrowse link
G Atm ATM serine/threonine kinase susceptibility ISO RGD PMID:15863839 RGD:1601249 NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545
JBrowse link
G Casp3 caspase 3 ISO RGD PMID:24484682 RGD:13782354 NCBI chrNW_004955403:24,315,712...24,326,271 JBrowse link
G Casp9 caspase 9 ISO RGD PMID:24484682 RGD:13782354 NCBI chrNW_004955527:2,613,691...2,630,217
Ensembl chrNW_004955527:2,613,683...2,629,738
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:10946357 RGD:11040931 NCBI chrNW_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313
JBrowse link
G Cd40 CD40 molecule treatment ISO protein:increased expression:serum RGD PMID:21574786 RGD:7248754 NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
JBrowse link
G Cd40lg CD40 ligand treatment ISO protein:increased expression:platelet (rat)
associated with Diabetes Mellitus, Type 2
RGD PMID:18787388, PMID:21574786, PMID:26950185 RGD:11344960, RGD:7248428, RGD:7248754 NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:30311386 NCBI chrNW_004955550:2,115,649...2,175,687
Ensembl chrNW_004955550:2,115,649...2,175,181
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21852083 NCBI chrNW_004955403:9,720,831...9,758,019
Ensembl chrNW_004955403:9,721,114...9,757,887
JBrowse link
G Cpb2 carboxypeptidase B2 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:16123492 RGD:2313641 NCBI chrNW_004955518:3,740,348...3,803,540
Ensembl chrNW_004955518:3,740,348...3,803,539
JBrowse link
G Csf1 colony stimulating factor 1 ISO RGD PMID:9158105 RGD:1641957 NCBI chrNW_004955435:13,404,236...13,423,059
Ensembl chrNW_004955435:13,404,508...13,424,247
JBrowse link
G Ctf1 cardiotrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21803294 NCBI chrNW_004955493:7,735,996...7,737,559 JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chrNW_004955465:6,356,970...6,391,206
Ensembl chrNW_004955465:6,356,863...6,392,207
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15486036 NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753
JBrowse link
G Eng endoglin treatment ISO protein:increased expression, aortic root, aortic arch, endothelium (mouse) RGD PMID:17901886 RGD:7257552 NCBI chrNW_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694
JBrowse link
G Fbxw4 F-box and WD repeat domain containing 4 ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:30311386 NCBI chrNW_004955485:8,584,836...8,688,416
Ensembl chrNW_004955485:8,584,836...8,669,705
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO associated with Carcinoma, Ductal, Breast RGD PMID:15491965 RGD:8655598 NCBI chrNW_004955428:17,840,554...17,894,779 JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:21966115 RGD:10449170 NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083
JBrowse link
G Gsr glutathione-disulfide reductase treatment ISO RGD PMID:24120393, PMID:24770475 RGD:10401874, RGD:10401896 NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO associated with Porphyria, Acute Intermittent (MeSH:D017118); protein:reduced activity:erythrocytes RGD PMID:2809566 RGD:2301684 NCBI chrNW_004955412:20,192,519...20,202,635
Ensembl chrNW_004955412:20,192,522...20,202,635
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver
mRNA:decreased expression:liver (rat)
CTD
RGD
PMID:1611649, PMID:8593127, PMID:17250646, PMID:24619822, PMID:25168180 RGD:13782271, RGD:19165129, RGD:5508480, RGD:5508696 NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745
JBrowse link
G Hnf4a hepatocyte 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 chrNW_004955445:12,925,248...12,962,501
Ensembl chrNW_004955445:12,924,662...12,984,281
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:12921987 RGD:1624216 NCBI chrNW_004955403:3,062,724...3,073,419 JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:17330503 RGD:1626623 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
JBrowse link
G Itih4 inter-alpha-trypsin inhibitor heavy chain 4 susceptibility ISO DNA:SNP:intron:rs3821831, homozygous C allele associated with higher total and HDL cholesterol
ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to
RGD
ClinVar
PMID:14661079 RGD:1627650 NCBI chrNW_004955430:2,772,064...2,787,912
Ensembl chrNW_004955430:2,770,373...2,789,131
JBrowse link
G Ldlr low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypercholesterolaemia
ClinVar Annotator: match by term: Hypercholesterolemia
protein:decreased expression: liver
CTD
ClinVar
RGD
PMID:1301940, PMID:1301956, PMID:1352322, PMID:1734910, PMID:1933004, PMID:2088165, PMID:3263645, PMID:3475071, PMID:4061492, PMID:4083361, PMID:7573037, PMID:7616128, PMID:7718019, PMID:7820934, PMID:7833932, PMID:8295321, PMID:8535447, PMID:9026534, PMID:9104431, PMID:9237502, PMID:9254862, PMID:9259195, PMID:9409298, PMID:9484998, PMID:9544745, PMID:9544746, PMID:9654205, PMID:9664576, PMID:9676383, PMID:9698020, PMID:9714107, PMID:9763532, PMID:9767373, PMID:9974426, PMID:10090473, PMID:10090484, PMID:10208479, PMID:10230472, PMID:10422803, PMID:10441197, PMID:10532689, PMID:10559517, PMID:10657581, PMID:10735632, PMID:10882754, PMID:11005141, PMID:11139254, PMID:11196104, PMID:11317361, PMID:11435110, PMID:11462246, PMID:11641914, PMID:11668627, PMID:11668640, PMID:11737238, PMID:11754108, PMID:11810272, PMID:11845603, PMID:11857755, PMID:12124988, PMID:12436241, PMID:12492446, PMID:12732381, PMID:14974088, PMID:15199436, PMID:15241806, PMID:15256764, PMID:15359125, PMID:15556094, PMID:15576851, PMID:15701167, PMID:15823276, PMID:15823280, PMID:15823288, PMID:15864114, PMID:15890894, PMID:16020744, PMID:16159606, PMID:16250003, PMID:16314194, PMID:16389549, PMID:16542394, PMID:16627557, PMID:16741953, PMID:17087781, PMID:17094996, PMID:17142622, PMID:17196209, PMID:17335829, PMID:17347910, PMID:17539906, PMID:17765246, PMID:18096825, PMID:18206115, PMID:18263977, PMID:18325082, PMID:18400033, PMID:18450471, PMID:18503695, PMID:18718593, PMID:19026292, PMID:19118540, PMID:19148831, PMID:19208450, PMID:19318025, PMID:19446849, PMID:19520913, PMID:19602640, PMID:19717150, PMID:19837725, PMID:19843101, PMID:20018285, PMID:20028367, PMID:20145306, PMID:20236128, PMID:20428891, PMID:20506408, PMID:20530721, PMID:20538126, PMID:20663204, PMID:21310417, PMID:21376320, PMID:21382890, PMID:21418584, PMID:21475731, PMID:21531209, PMID:21600525, PMID:21600530, PMID:21722902, PMID:21865347, PMID:21925044, PMID:21935675, PMID:21990180, PMID:22294733, PMID:22353362, PMID:22390909, PMID:22398274, PMID:22698793, PMID:22881376, PMID:22883975, PMID:22884763, PMID:22910581, PMID:22923420, PMID:23054246, PMID:23064986, PMID:23130880, PMID:23375686, PMID:23535506, PMID:23651751, PMID:23669246, PMID:23680767, PMID:23833242, PMID:23956253, PMID:24033266, PMID:24055113, PMID:24082139, PMID:24373485, PMID:24503134, PMID:24507775, PMID:24529145, PMID:24585268, PMID:24627126, PMID:24956927, PMID:25154303, PMID:25333069, PMID:25378237, PMID:25437892, PMID:25461735, PMID:25463123, PMID:25487149, PMID:25525159, PMID:25606447, PMID:25637381, PMID:25647241, PMID:25682026, PMID:25741862, PMID:25741868, PMID:25741872, PMID:25769531, PMID:25936317, PMID:26020417, PMID:26036859, PMID:26238499, PMID:26332594, PMID:26361156, PMID:26415676, PMID:26467025, PMID:26748104, PMID:26802169, PMID:26875785, PMID:26892515, PMID:26927322, PMID:27050191, PMID:27175606, PMID:27206935, PMID:27378433, PMID:27497240, PMID:27578128, PMID:27678436, PMID:27680772, PMID:27765764, PMID:27784735, PMID:27824480, PMID:27828139, PMID:27830735, PMID:27878139, PMID:28104544, PMID:28126585, PMID:28145427, PMID:28469073, PMID:28492532, PMID:28502495, PMID:28502510, PMID:28965616, PMID:29172679, PMID:29353225, PMID:29874871, PMID:30293936, PMID:30311386, PMID:30333156, PMID:30583242, PMID:30592178, PMID:31345425 RGD:12910100, RGD:12910104, RGD:1581819, RGD:21410185 NCBI chrNW_004955495:2,114,702...2,135,584
Ensembl chrNW_004955495:2,114,434...2,138,056
JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO DNA:mutation:splice site; mRNA:in-frame deletion; protein:lacks 26 amino acids:beta strands 6 and 7 lost RGD PMID:15599766 RGD:1626107 NCBI chrNW_004955452:5,081,919...5,102,349
Ensembl chrNW_004955452:5,081,556...5,095,182
JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:22948215, PMID:25086370 RGD:12904911 NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472
JBrowse link
G Lipc lipase C, hepatic type ISO protein, mRNA:decreased expression:plasma, liver (rat)
associated with Diabetes Mellitus; protein:decreased expression:plasma (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:liver (mouse)
RGD PMID:6340423, PMID:7830494, PMID:11279518 RGD:2308793, RGD:2308841, RGD:2308850 NCBI chrNW_004955450:15,947,869...16,062,449
Ensembl chrNW_004955450:15,948,187...16,048,766
JBrowse link
G LOC102008593 cholesterol 7-alpha-monooxygenase ISO mRNA:decreased expression:liver
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:8245718, PMID:16472823 RGD:13782194 NCBI chrNW_004955454:17,035,105...17,078,854
Ensembl chrNW_004955454:17,036,204...17,042,756
JBrowse link
G LOC102027002 lanosterol 14-alpha demethylase ISO mRNA:decreased expression:liver RGD PMID:16472823 RGD:13782194 NCBI chrNW_004955432:9,092,923...9,112,615
Ensembl chrNW_004955432:9,092,933...9,112,615
JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypercholesterolemia
CTD
ClinVar
PMID:1598907, PMID:21852083, PMID:30311386 NCBI chrNW_004955403:43,646,084...43,672,116
Ensembl chrNW_004955403:43,646,084...43,673,967
JBrowse link
G Lss lanosterol synthase ISO mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271 NCBI chrNW_004955407:42,633,658...42,653,399
Ensembl chrNW_004955407:42,633,658...42,653,399
JBrowse link
G Mif macrophage migration inhibitory factor ISO mRNA:increased expression:glomerulus RGD PMID:9158105 RGD:1641957 NCBI chrNW_004955455:8,367,566...8,368,460
Ensembl chrNW_004955455:8,367,566...8,368,460
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271 NCBI chrNW_004955541:2,578,584...2,581,823
Ensembl chrNW_004955541:2,579,074...2,581,821
JBrowse link
G Mylk myosin light chain kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21052790 NCBI chrNW_004955427:22,760,432...23,008,432
Ensembl chrNW_004955427:22,762,221...22,970,508
JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14871415 NCBI chrNW_004955456:13,353,780...13,363,956
Ensembl chrNW_004955456:13,354,011...13,363,891
JBrowse link
G Nox1 NADPH oxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20832062 NCBI chrNW_004955503:6,973,965...7,020,182
Ensembl chrNW_004955503:6,974,239...6,997,618
JBrowse link
G Npc1l1 NPC1 like intracellular cholesterol transporter 1 ISO RGD PMID:15671032 RGD:1642184 NCBI chrNW_004955456:7,528,452...7,547,714
Ensembl chrNW_004955456:7,528,423...7,547,720
JBrowse link
G Npy neuropeptide Y ISO associated with Obesity;DNA:missense mutation:cds:p.L7P (human) RGD PMID:11689216 RGD:1580177 NCBI chrNW_004955410:26,348,388...26,355,232
Ensembl chrNW_004955410:26,348,504...26,355,297
JBrowse link
G Nr4a3 nuclear receptor subfamily 4 group A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16005304 NCBI chrNW_004955419:25,779,368...25,817,445
Ensembl chrNW_004955419:25,779,178...25,818,706
JBrowse link
G Pappa pappalysin 1 ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:14661010, PMID:15531533 RGD:1642328, RGD:1642329 NCBI chrNW_004955419:11,415,666...11,645,994
Ensembl chrNW_004955419:11,420,638...11,646,145
JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12730697 NCBI chrNW_004955464:4,424,583...4,439,805
Ensembl chrNW_004955464:4,425,435...4,439,842
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16229851 NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
JBrowse link
G Ppp1r17 protein phosphatase 1 regulatory subunit 17 ISO ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to ClinVar PMID:12955585 NCBI chrNW_004955410:32,720,954...32,737,676
Ensembl chrNW_004955410:32,720,889...32,737,695
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:28492532, PMID:30311386 NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622
JBrowse link
G Scap SREBF chaperone ISO protein:increased expression:liver RGD PMID:16741953 RGD:1581819 NCBI chrNW_004955420:24,813,683...24,869,602
Ensembl chrNW_004955420:24,813,534...24,869,480
JBrowse link
G Scarb1 scavenger receptor class B member 1 ISO RGD PMID:15967843 RGD:1580004 NCBI chrNW_004955482:4,813,502...4,836,479
Ensembl chrNW_004955482:4,813,955...4,837,392
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:24448499, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chrNW_004955504:36,939...66,507 JBrowse link
G Sele selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chrNW_004955462:7,564,437...7,575,297 JBrowse link
G Serpinf2 serpin family F member 2 ISO protein:decreased expression:serum RGD PMID:1384011 RGD:1625534 NCBI chrNW_004955481:1,441,262...1,449,078
Ensembl chrNW_004955481:1,442,010...1,449,242
JBrowse link
G Soat2 sterol O-acyltransferase 2 susceptibility ISO RGD PMID:11100118 RGD:1556516 NCBI chrNW_004955458:383,123...394,003
Ensembl chrNW_004955458:382,892...394,749
JBrowse link
G Sqle squalene epoxidase ISO mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271 NCBI chrNW_004955461:121,886...143,389
Ensembl chrNW_004955461:122,528...143,064
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO protein:altered localization:liver RGD PMID:16741953 RGD:1581819 NCBI chrNW_004955577:171,425...183,669
Ensembl chrNW_004955577:171,425...186,046
JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO protein:altered localization:liver
DNA:mutations:exon:p.V623M, p.R645Q (human)
DNA:polymorphism: :1784G>C (human)
RGD PMID:11950857, PMID:15547298, PMID:16741953, PMID:18095312 RGD:1581415, RGD:1581819, RGD:1625197, RGD:2308813 NCBI chrNW_004955413:27,271,717...27,326,655
Ensembl chrNW_004955413:27,271,953...27,326,759
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chrNW_004955435:5,390,745...5,410,025
Ensembl chrNW_004955435:5,390,751...5,411,691
JBrowse link
G Vegfa vascular endothelial growth factor A ISO associated with Carcinoma, Ductal, Breast RGD PMID:15491965 RGD:8655598 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
G Vldlr very low density lipoprotein receptor ISO RGD PMID:8636110 RGD:1625573 NCBI chrNW_004955434:7,013,092...7,050,103
Ensembl chrNW_004955434:7,013,092...7,050,103
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 chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424
JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO OMIM NCBI chrNW_004955464:4,424,583...4,439,805
Ensembl chrNW_004955464:4,425,435...4,439,842
JBrowse link
Hyperlipidemia, Combined, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usf1 upstream transcription factor 1 susceptibility ISO OMIM NCBI chrNW_004955468:12,814,810...12,821,383
Ensembl chrNW_004955468:12,814,810...12,821,383
JBrowse link
Hyperlipoproteinemia Type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chrNW_004955419:21,553,863...21,681,626
Ensembl chrNW_004955419:21,553,835...21,681,619
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO DNA:polymorphism: :p.Q27E RGD PMID:17020471 RGD:1601121 NCBI chrNW_004955415:5,515,157...5,517,198
Ensembl chrNW_004955415:5,515,697...5,516,980
JBrowse link
G Apoa1 apolipoprotein A1 ISO DNA:polymorphism:promoter:-75G>A (human) RGD PMID:9699897 RGD:1601186 NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298
JBrowse link
G Apoa2 apolipoprotein A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12522687 NCBI chrNW_004955468:12,977,956...12,979,282
Ensembl chrNW_004955468:12,977,956...12,979,753
JBrowse link
G Apoa4 apolipoprotein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chrNW_004955412:18,158,095...18,160,636
Ensembl chrNW_004955412:18,155,801...18,160,701
JBrowse link
G Apob apolipoprotein B ISO OMIM NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424
JBrowse link
G Apoc3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chrNW_004955412:18,165,667...18,168,015
Ensembl chrNW_004955412:18,165,667...18,168,015
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745
JBrowse link
G Ldlr low density lipoprotein receptor ISO DNA:deletion: :p.G197del (human)
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia
ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B
ClinVar Annotator: match by term: Hyperlipoproteinemia Type II
ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1301940, PMID:1301956, PMID:1319734, PMID:1352322, PMID:1453433, PMID:1464748, PMID:1493640, PMID:1734910, PMID:1830890, PMID:1867200, PMID:1884514, PMID:1933004, PMID:1952806, PMID:1959928, PMID:1978682, PMID:1999337, PMID:2029498, PMID:2088165, PMID:2318961, PMID:2352257, PMID:2569482, PMID:2600087, PMID:2698793, PMID:2726768, PMID:2760205, PMID:2901412, PMID:2920733, PMID:3020025, PMID:3025214, PMID:3198114, PMID:3202825, PMID:3263645, PMID:3425583, PMID:3472763, PMID:3815525, PMID:4061492, PMID:7489239, PMID:7548065, PMID:7573037, PMID:7583548, PMID:7603991, PMID:7616128, PMID:7635461, PMID:7649546, PMID:7649549, PMID:7718019, PMID:7718024, PMID:7749829, PMID:7894220, PMID:7903864, PMID:7947594, PMID:7979249, PMID:8054972, PMID:8093663, PMID:8096412, PMID:8098448, PMID:8347689, PMID:8399083, PMID:8535447, PMID:8645371, PMID:8828982, PMID:8829662, PMID:8850176, PMID:8882879, PMID:8911609, PMID:9016531, PMID:9026534, PMID:9048913, PMID:9104431, PMID:9157944, PMID:9254862, PMID:9259195, PMID:9272705, PMID:9409298, PMID:9430375, PMID:9452078, PMID:9452095, PMID:9484998, PMID:9654205, PMID:9664576, PMID:9676383, PMID:9678702, PMID:9698020, PMID:9712531, PMID:9714107, PMID:9727746, PMID:9763532, PMID:9767373, PMID:9974426, PMID:10090473, PMID:10090484, PMID:10208479, PMID:10407508, PMID:10422803, PMID:10422804, PMID:10441197, PMID:10532689, PMID:10559517, PMID:10634824, PMID:10657581, PMID:10704205, PMID:10735632, PMID:10782930, PMID:10790219, PMID:10807540, PMID:10882754, PMID:10952765, PMID:10978268, PMID:11031227, PMID:11040093, PMID:11052664, PMID:11139254, PMID:11196104, PMID:11313767, PMID:11317361, PMID:11317362, PMID:11373616, PMID:11381031, PMID:11462246, PMID:11491306, PMID:11585102, PMID:11600564, PMID:11641914, PMID:11668627, PMID:11668640, PMID:11754108, PMID:11810272, PMID:11845603, PMID:11851376, PMID:11857755, PMID:11933210, PMID:12009418, PMID:12113284, PMID:12124988, PMID:12406975, PMID:12417285, PMID:12436241, PMID:12477733, PMID:12522687, PMID:12553167, PMID:12673584, PMID:12730724, PMID:12732381, PMID:12837857, PMID:14209286, PMID:14508510, PMID:14512370, PMID:14749324, PMID:14974088, PMID:14993243, PMID:15100232, PMID:15199436, PMID:15200491, PMID:15241806, PMID:15256764, PMID:15359125, PMID:15523646, PMID:15528480, PMID:15556092, PMID:15556093, PMID:15556094, PMID:15701167, PMID:15823276, PMID:15823280, PMID:15864114, PMID:15936313, PMID:16020744, PMID:16159606, PMID:16183066, PMID:16205024, PMID:16250003, PMID:16314194, PMID:16343504, PMID:16389549, PMID:16542394, PMID:16627557, PMID:16796766, PMID:17087781, PMID:17094996, PMID:17142622, PMID:17196209, PMID:17335829, PMID:17347910, PMID:17406740, PMID:17426749, PMID:17539906, PMID:17765246, PMID:18096825, PMID:18206115, PMID:18239150, PMID:18263977, PMID:18279815, PMID:18325082, PMID:18503695, PMID:18677035, PMID:18700895, PMID:18718593, PMID:18757057, PMID:18847225, PMID:18929537, PMID:19007590, PMID:19013141, PMID:19026292, PMID:19118540, PMID:19148831, PMID:19208450, PMID:19318025, PMID:19319977, PMID:19361455, PMID:19411563, PMID:19446849, PMID:19467224, PMID:19538517, PMID:19602640, PMID:19717150, PMID:19843101, PMID:20045108, PMID:20145306, PMID:20236128, PMID:20506408, PMID:20538126, PMID:20663204, PMID:20809525, PMID:20828696, PMID:21145767, PMID:21276076, PMID:21310417, PMID:21376320, PMID:21382890, PMID:21418584, PMID:21475731, PMID:21511053, PMID:21531209, PMID:21600525, PMID:21600530, PMID:21642693, PMID:21722902, PMID:21865347, PMID:21925044, PMID:21935675, PMID:21990180, PMID:22095935, PMID:22294733, PMID:22353362, PMID:22390909, PMID:22398274, PMID:22487947, PMID:22698793, PMID:22859806, PMID:22881376, PMID:22883975, PMID:23054246, PMID:23064986, PMID:23155708, PMID:23375686, PMID:23510778, PMID:23651751, PMID:23669246, PMID:23680767, PMID:23833242, PMID:23956253, PMID:24014831, PMID:24033266, PMID:24075752, PMID:24281370, PMID:24507775, PMID:24585268, PMID:24627126, PMID:24956927, PMID:25154303, PMID:25282520, PMID:25378237, PMID:25412742, PMID:25461735, PMID:25463123, PMID:25487149, PMID:25525159, PMID:25545329, PMID:25637381, PMID:25647241, PMID:25741868, PMID:25741871, PMID:25769531, PMID:25911074, PMID:25921077, PMID:25962062, PMID:26020417, PMID:26036859, PMID:26046366, PMID:26238499, PMID:26343872, PMID:26433113, PMID:26467025, PMID:26633542, PMID:26748104, PMID:26892515, PMID:26927322, PMID:27206935, PMID:27247956, PMID:27542166, PMID:27578127, PMID:27678436, PMID:27680772, PMID:27765764, PMID:27783906, PMID:27784735, PMID:27816806, PMID:27821657, PMID:27824480, PMID:28008010, PMID:28028493, PMID:28104544, PMID:28126585, PMID:28145427, PMID:28161202, PMID:28169869, PMID:28235710, PMID:28349240, PMID:28379029, PMID:28391882, PMID:28458923, PMID:28492532, PMID:28502510, PMID:28873201, PMID:28895539, PMID:28964736, PMID:28965616, PMID:29233637, PMID:29284604, PMID:29353225, PMID:29874871, PMID:30270055, PMID:30293936, PMID:30586733, PMID:30592178, PMID:31345425, PMID:220236128 RGD:1581824, RGD:5490248 NCBI chrNW_004955495:2,114,702...2,135,584
Ensembl chrNW_004955495:2,114,434...2,138,056
JBrowse link
G Lipc lipase C, hepatic type ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chrNW_004955450:15,947,869...16,062,449
Ensembl chrNW_004955450:15,948,187...16,048,766
JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chrNW_004955403:43,646,084...43,672,116
Ensembl chrNW_004955403:43,646,084...43,673,967
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:16280123 RGD:1642031 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Mttp microsomal triglyceride transfer protein ISO RGD PMID:17215532 RGD:1625482 NCBI chrNW_004955496:7,963,323...8,022,393
Ensembl chrNW_004955496:7,963,262...8,009,838
JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 severity ISO DNA:missense mutations:cds:p.S127R, p.F216L (human)
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia
DNA:missense mutation:cds:p.D374Y (human)
RGD
ClinVar
PMID:12730697, PMID:14727179, PMID:15654334, PMID:15772090, PMID:16424354, PMID:16554528, PMID:16571601, PMID:17316651, PMID:18354102, PMID:19351729, PMID:19797716, PMID:19917273, PMID:20006333, PMID:20031607, PMID:20579540, PMID:21146822, PMID:23743349, PMID:24033266, PMID:24507774, PMID:24859021, PMID:25014035, PMID:25278291, PMID:25412415, PMID:25741868, PMID:25962062, PMID:26049403, PMID:26374825, PMID:26467025, PMID:26632531, PMID:27135400, PMID:27218270, PMID:27280970, PMID:27765764, PMID:28179607, PMID:28492532, PMID:28768753, PMID:28965616, PMID:29083407, PMID:29261184, PMID:29997226 RGD:1580998, RGD:1581001, RGD:1581002 NCBI chrNW_004955464:4,424,583...4,439,805
Ensembl chrNW_004955464:4,425,435...4,439,842
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523, PMID:16238680 NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
JBrowse link
G Pon2 paraoxonase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chrNW_004955432:11,988,009...12,020,702
Ensembl chrNW_004955432:11,987,919...12,020,740
JBrowse link
hyperlipoproteinemia type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16143024 NCBI chrNW_004955412:18,128,861...18,131,752
Ensembl chrNW_004955412:18,129,603...18,131,115
JBrowse link
G Apoc3 apolipoprotein C3 ISO RGD PMID:2879788 RGD:1578447 NCBI chrNW_004955412:18,165,667...18,168,015
Ensembl chrNW_004955412:18,165,667...18,168,015
JBrowse link
G Apoe apolipoprotein E ISO OMIM NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888
JBrowse link
hyperlipoproteinemia type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 susceptibility ISO ClinVar Annotator: match by term: Familial hypertriglyceridemia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12915450, PMID:23151256, PMID:23307945, PMID:25741868 NCBI chrNW_004955412:18,128,861...18,131,752
Ensembl chrNW_004955412:18,129,603...18,131,115
JBrowse link
G Creb3l3 cAMP responsive element binding protein 3 like 3 ISO ClinVar Annotator: match by term: Familial hypertriglyceridemia ClinVar PMID:21666694 NCBI chrNW_004955495:4,651,086...4,670,852
Ensembl chrNW_004955495:4,651,369...4,661,139
JBrowse link
hyperlipoproteinemia type V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 ISO OMIM NCBI chrNW_004955412:18,128,861...18,131,752
Ensembl chrNW_004955412:18,129,603...18,131,115
JBrowse link
Hyperlipoproteinemias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa4 apolipoprotein A4 ISO protein:increased expression:blood plasma (human) RGD PMID:226830 RGD:5685673 NCBI chrNW_004955412:18,158,095...18,160,636
Ensembl chrNW_004955412:18,155,801...18,160,701
JBrowse link
G Apoa5 apolipoprotein A5 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C, p.S19W (human) RGD PMID:18468520 RGD:2313317 NCBI chrNW_004955412:18,128,861...18,131,752
Ensembl chrNW_004955412:18,129,603...18,131,115
JBrowse link
G Apoc2 apolipoprotein C2 susceptibility ISO protein:increased expression:serum
DNA:missense mutation: :p.L72P (human)
RGD PMID:1468157, PMID:16153625 RGD:1601204, RGD:1601208 NCBI chrNW_004955555:2,019,547...2,021,543
Ensembl chrNW_004955555:2,016,217...2,021,830
JBrowse link
G Apoc3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2022742 NCBI chrNW_004955412:18,165,667...18,168,015
Ensembl chrNW_004955412:18,165,667...18,168,015
JBrowse link
G Apoh apolipoprotein H ISO RGD PMID:6613192 RGD:2313992 NCBI chrNW_004955478:5,612,258...5,626,061
Ensembl chrNW_004955478:5,610,164...5,626,020
JBrowse link
G Lipc lipase C, hepatic type ISO associated with Nephrosis; protein:decreased expression:plasma (rat)
associated with Obesity and Diabetes; DNA:transition:promoter:-514C>T (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:6480830, PMID:11427226, PMID:15941898, PMID:18160998 RGD:2308798, RGD:2308829, RGD:2308834 NCBI chrNW_004955450:15,947,869...16,062,449
Ensembl chrNW_004955450:15,948,187...16,048,766
JBrowse link
G Pon1 paraoxonase 1 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:11015468, PMID:15324535 RGD:731237, RGD:8547684 NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:10828087 NCBI chrNW_004955413:30,306,563...30,366,245
Ensembl chrNW_004955413:30,307,219...30,359,500
JBrowse link
G Serpinf2 serpin family F member 2 ISO RGD PMID:6121140 RGD:1625537 NCBI chrNW_004955481:1,441,262...1,449,078
Ensembl chrNW_004955481:1,442,010...1,449,242
JBrowse link
Hypertriglyceridemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp1 acid phosphatase 1 ISO associated with Obesity RGD PMID:12409270 RGD:1625288 NCBI chrNW_004955487:290,434...302,405 JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with HIV Infections RGD PMID:21595566 RGD:8694463 NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402
JBrowse link
G Ahsg alpha 2-HS glycoprotein ISO protein:increased expression:serum RGD PMID:19228823 RGD:2313809 NCBI chrNW_004955420:21,071,111...21,078,397
Ensembl chrNW_004955420:21,069,681...21,078,298
JBrowse link
G Angptl3 angiopoietin like 3 ISO RGD PMID:12672813 RGD:1578347 NCBI chrNW_004955423:27,113,378...27,121,339
Ensembl chrNW_004955423:27,109,962...27,121,276
JBrowse link
G Angptl4 angiopoietin like 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28842503 NCBI chrNW_004955563:1,024,163...1,030,816
Ensembl chrNW_004955563:1,021,414...1,029,894
JBrowse link
G Apoa1 apolipoprotein A1 no_association ISO DNA:polymorphism:promoter:-75G>A RGD PMID:7910586 RGD:1601187 NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298
JBrowse link
G Apoa2 apolipoprotein A2 ISO DNA:polymorphism RGD PMID:9489233 RGD:1601190 NCBI chrNW_004955468:12,977,956...12,979,282
Ensembl chrNW_004955468:12,977,956...12,979,753
JBrowse link
G Apoa4 apolipoprotein A4 ISO human gene in mouse model RGD PMID:2167514 RGD:5685672 NCBI chrNW_004955412:18,158,095...18,160,636
Ensembl chrNW_004955412:18,155,801...18,160,701
JBrowse link
G Apoa5 apolipoprotein A5 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C (human)
ClinVar Annotator: match by term: Hypertriglyceridemia, susceptibility to
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:11588264, PMID:12417524, PMID:12417525, PMID:12818421, PMID:12915450, PMID:16238453, PMID:18468520, PMID:20657596, PMID:23151256, PMID:23307945, PMID:24387992, PMID:25741868 RGD:1578414, RGD:2313317, RGD:2313328 NCBI chrNW_004955412:18,128,861...18,131,752
Ensembl chrNW_004955412:18,129,603...18,131,115
JBrowse link
G Apob apolipoprotein B ISO protein:increased expression:plasma (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:8121310, PMID:20657596 RGD:11353966 NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424
JBrowse link
G Apoc1 apolipoprotein C1 ISO protein:increased expression:plasma RGD PMID:3757210 RGD:2313953 NCBI chrNW_004955555:2,005,962...2,007,239 JBrowse link
G Apoc2 apolipoprotein C2 susceptibility ISO RGD PMID:3944267, PMID:7590197 RGD:1601205, RGD:1601214 NCBI chrNW_004955555:2,019,547...2,021,543
Ensembl chrNW_004955555:2,016,217...2,021,830
JBrowse link
G Apoc3 apolipoprotein C3 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent or Coronary Disease;DNA:polymorphism RGD PMID:7705829, PMID:15715433 RGD:1578444, RGD:2306767 NCBI chrNW_004955412:18,165,667...18,168,015
Ensembl chrNW_004955412:18,165,667...18,168,015
JBrowse link
G Apoe apolipoprotein E susceptibility ISO associated with Metabolic Syndrome X; DNA:missense mutations:cds:p.C112R, p.R158C (human)
ClinVar Annotator: match by term: Hypertriglyceridemia
RGD
ClinVar
PMID:2987927, PMID:3922972, PMID:7263700, PMID:8346443, PMID:8618665, PMID:8644717, PMID:9343467, PMID:9932938, PMID:10213549, PMID:10799751, PMID:11835377, PMID:11940689, PMID:11940706, PMID:14741101, PMID:15048896, PMID:15184602, PMID:15326261, PMID:15557508, PMID:15668424, PMID:15713714, PMID:19605830, PMID:22381401, PMID:23060451, PMID:23296339, PMID:23571587, PMID:24033266, PMID:25741868, PMID:27260402, PMID:28492532, PMID:28808185, PMID:30311386 RGD:13703132, RGD:1601235 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism
associated with diabetes mellitus
CTD
RGD
PMID:8149699, PMID:23000450 RGD:1601335 NCBI chrNW_004955448:15,327,374...15,396,827
Ensembl chrNW_004955448:15,329,273...15,396,970
JBrowse link
G Cftr CF transmembrane conductance regulator ISO associated with Pancreatitis;DNA:missense mutation, haplotype: :p.I556V (human) RGD PMID:17981921 RGD:11566035 NCBI chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 treatment ISO RGD PMID:18183944 RGD:10401058 NCBI chrNW_004955454:2,933,904...2,944,675
Ensembl chrNW_004955454:2,934,152...2,944,492
JBrowse link
G F7 coagulation factor VII ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) RGD PMID:19329212 RGD:2312379 NCBI chrNW_004955404:685,170...692,797
Ensembl chrNW_004955404:680,594...693,665
JBrowse link
G Fabp2 fatty acid binding protein 2 ISO DNA:polymorphism:CDS:amino acid A54T, in a normal glucose tolerant population from urban south India
associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.A54T (human)
RGD PMID:10999802, PMID:16919542 RGD:1300313, RGD:1626401 NCBI chrNW_004955428:20,930,512...20,933,950
Ensembl chrNW_004955428:20,930,479...20,933,950
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:22947172 RGD:10449176 NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083
JBrowse link
G Gckr glucokinase regulator ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertriglyceridemia
CTD
ClinVar
PMID:20657596, PMID:22182842, PMID:25741868 NCBI chrNW_004955469:9,461,541...9,485,034
Ensembl chrNW_004955469:9,461,848...9,484,707
JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO RGD PMID:11118009 RGD:1625423 NCBI chrNW_004955424:15,692,088...15,739,894
Ensembl chrNW_004955424:15,692,088...15,739,894
JBrowse link
G Hnf4a hepatocyte nuclear factor 4 alpha ISO Finnish and Mexican populations; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1A (1-1-2) RGD PMID:16804065 RGD:1601642 NCBI chrNW_004955445:12,925,248...12,962,501
Ensembl chrNW_004955445:12,924,662...12,984,281
JBrowse link
G Il6st interleukin 6 signal transducer ISO RGD PMID:8843746 RGD:1626687 NCBI chrNW_004955446:11,790,636...11,837,734
Ensembl chrNW_004955446:11,790,444...11,835,001
JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419
JBrowse link
G Insig1 insulin induced gene 1 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chrNW_004955491:8,333,624...8,344,658
Ensembl chrNW_004955491:8,335,359...8,344,658
JBrowse link
G Insig2 insulin induced gene 2 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chrNW_004955459:11,571,582...11,596,069
Ensembl chrNW_004955459:11,571,145...11,592,146
JBrowse link
G Lcat lecithin-cholesterol acyltransferase ISO RGD PMID:14668345 RGD:1581782 NCBI chrNW_004955484:8,772,692...8,776,122
Ensembl chrNW_004955484:8,772,692...8,776,122
JBrowse link
G Ldlr low density lipoprotein receptor ISO RGD PMID:27378433, PMID:28469073 RGD:12910100, RGD:12910104 NCBI chrNW_004955495:2,114,702...2,135,584
Ensembl chrNW_004955495:2,114,434...2,138,056
JBrowse link
G Lep leptin ISO RGD PMID:22948215 RGD:12904911 NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472
JBrowse link
G Lipc lipase C, hepatic type ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human) RGD PMID:187516 RGD:2308846 NCBI chrNW_004955450:15,947,869...16,062,449
Ensembl chrNW_004955450:15,948,187...16,048,766
JBrowse link
G Lipe lipase E, hormone sensitive type ISO RGD PMID:11016888 RGD:2313581 NCBI chrNW_004955555:511,085...531,165
Ensembl chrNW_004955555:514,410...530,759
JBrowse link
G Lipi lipase I susceptibility ISO DNA:polymorphism: :p.C55Y
ClinVar Annotator: match by term: Hypertriglyceridemia, susceptibility to
RGD
ClinVar
PMID:12719377 RGD:1625450 NCBI chrNW_004955407:16,013,285...16,071,187
Ensembl chrNW_004955407:16,012,264...16,056,796
JBrowse link
G Lmf1 lipase maturation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17994020 NCBI chrNW_004955442:16,250,131...16,360,907
Ensembl chrNW_004955442:16,245,081...16,360,846
JBrowse link
G Lpl lipoprotein lipase susceptibility ISO CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by term: Hypertriglyceridemia
CTD
ClinVar
RGD
PMID:8147947, PMID:11016888, PMID:16431216, PMID:17848837, PMID:20657596, PMID:25741868 RGD:1580533, RGD:2313305, RGD:2313581 NCBI chrNW_004955403:43,646,084...43,672,116
Ensembl chrNW_004955403:43,646,084...43,673,967
JBrowse link
G Lta lymphotoxin alpha no_association
susceptibility
ISO DNA:polymorphism
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD PMID:7783649, PMID:9245742 RGD:1625035, RGD:1625036 NCBI chrNW_004955437:114,216...116,003
Ensembl chrNW_004955437:114,640...115,529
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO associated with Insulin Resistance RGD PMID:20566415 RGD:10040984 NCBI chrNW_004955486:2,487,642...2,599,694
Ensembl chrNW_004955486:2,487,642...2,599,694
JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 ISO associated with obesity RGD PMID:20729114 RGD:13801195 NCBI chrNW_004955472:3,054,026...3,064,530
Ensembl chrNW_004955472:3,054,154...3,064,433
JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:decreased expression:aorta RGD PMID:17824809 RGD:2292131 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
JBrowse link
G Pde5a phosphodiesterase 5A ISO RGD PMID:18787522 RGD:2314464 NCBI chrNW_004955428:20,785,497...20,904,717
Ensembl chrNW_004955428:20,785,423...20,904,717
JBrowse link
G Plin2 perilipin 2 ISO associated with Obesity RGD PMID:17484887 RGD:1625752 NCBI chrNW_004955434:21,573,860...21,580,990
Ensembl chrNW_004955434:21,574,292...21,580,988
JBrowse link
G Pltp phospholipid transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chrNW_004955445:11,384,723...11,399,217
Ensembl chrNW_004955445:11,384,723...11,399,217
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chrNW_004955413:30,306,563...30,366,245
Ensembl chrNW_004955413:30,307,219...30,359,500
JBrowse link
G Rp1 RP1 axonemal microtubule associated ISO ClinVar Annotator: match by term: Hypertriglyceridemia, susceptibility to ClinVar PMID:12764676, PMID:20664799, PMID:25741868 NCBI chrNW_004955454:13,781,556...14,082,310 JBrowse link
G Rps12 ribosomal protein S12 ISO associated with Metabolic Syndrome X;mRNA:increased expression:liver RGD PMID:25294893 RGD:11039460 NCBI chrNW_004955436:13,328,496...13,331,321 JBrowse link
G Serpinf2 serpin family F member 2 ISO protein:increased expression:plasma RGD PMID:9207984 RGD:1625533 NCBI chrNW_004955481:1,441,262...1,449,078
Ensembl chrNW_004955481:1,442,010...1,449,242
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chrNW_004955442:7,321,337...7,323,109
Ensembl chrNW_004955442:7,321,337...7,323,109
JBrowse link
G Socs3 suppressor of cytokine signaling 3 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chrNW_004955506:4,222,455...4,225,563
Ensembl chrNW_004955506:4,222,455...4,225,563
JBrowse link
G Trpm1 transient receptor potential cation channel subfamily M member 1 ISO DNA:SNP:intron:g.59080C>T (rs11070811) (human) RGD PMID:21439949 RGD:7175561 NCBI chrNW_004955416:29,846,374...29,880,922
Ensembl chrNW_004955416:29,814,077...29,939,344
JBrowse link
G Txnip thioredoxin interacting protein susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:3' utr RGD PMID:17381501 RGD:1642750 NCBI chrNW_004955568:103,801...107,791
Ensembl chrNW_004955568:103,762...107,785
JBrowse link
G Vldlr very low density lipoprotein receptor ISO associated with Kidney Failure, Chronic;mRNA, protein:decreased expression:adipose tissue, skeletal muscle RGD PMID:9507207 RGD:1625577 NCBI chrNW_004955434:7,013,092...7,050,103
Ensembl chrNW_004955434:7,013,092...7,050,103
JBrowse link
Hypertriglyceridemia, Transient Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpd1 glycerol-3-phosphate dehydrogenase 1 ISO OMIM NCBI chrNW_004955547:676,661...683,906
Ensembl chrNW_004955547:676,342...690,777
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 ISO ClinVar Annotator: match by term: Sitosterolemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:11099417, PMID:11138003, PMID:11452359, PMID:11907139, PMID:15375183, PMID:17228349, PMID:17976197, PMID:19111681, PMID:20521169, PMID:20543520, PMID:20719861, PMID:21729603, PMID:24033266, PMID:24166850, PMID:24423340, PMID:25665839, PMID:25741868, PMID:26813946, PMID:27291889, PMID:28203044, PMID:28492532, PMID:28521186, PMID:28771437, PMID:29353225, PMID:29886606, PMID:30985648, PMID:31060161, PMID:31064749 RGD:631968 NCBI chrNW_004955441:10,964,588...10,987,771
Ensembl chrNW_004955441:10,964,858...10,986,967
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Sitosterolemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:3706300, PMID:4360855, PMID:6110091, PMID:11099417, PMID:11264985, PMID:11452359, PMID:11893785, PMID:12124998, PMID:15054092, PMID:15996216, PMID:16029460, PMID:17632509, PMID:20854103, PMID:21039838, PMID:21274884, PMID:22898925, PMID:23241408, PMID:24033266, PMID:24657386, PMID:25073796, PMID:25741868, PMID:27291889, PMID:28492532, PMID:28521186, PMID:28739549, PMID:31064749 RGD:1300331, RGD:631968 NCBI chrNW_004955441:10,982,307...11,004,789
Ensembl chrNW_004955441:10,982,307...11,009,116
JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Sitosterolemia ClinVar PMID:11138003, PMID:11907139, PMID:15375183, PMID:17228349, PMID:17976197, PMID:19111681, PMID:20521169, PMID:20543520, PMID:20719861, PMID:21729603, PMID:24033266, PMID:24166850, PMID:24423340, PMID:25665839, PMID:25741868, PMID:26813946, PMID:28203044, PMID:28492532, PMID:28521186, PMID:28771437, PMID:29353225, PMID:29886606, PMID:30985648, PMID:31060161 NCBI chrNW_004955441:10,928,577...10,961,194
Ensembl chrNW_004955441:10,928,343...10,961,194
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: Sitosterolemia 1 ClinVar PMID:11668628, PMID:24503134, PMID:25741868, PMID:27291889, PMID:28492532, PMID:31064749 NCBI chrNW_004955441:10,964,588...10,987,771
Ensembl chrNW_004955441:10,964,858...10,986,967
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO OMIM NCBI chrNW_004955441:10,982,307...11,004,789
Ensembl chrNW_004955441:10,982,307...11,009,116
JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Sitosterolemia 1 ClinVar PMID:11668628, PMID:24503134, PMID:25741868, PMID:28492532, PMID:31064749 NCBI chrNW_004955441:10,928,577...10,961,194
Ensembl chrNW_004955441:10,928,343...10,961,194
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 OMIM NCBI chrNW_004955441:10,964,588...10,987,771
Ensembl chrNW_004955441:10,964,858...10,986,967
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: SITOSTEROLEMIA 2 ClinVar PMID:16029460, PMID:20719861 NCBI chrNW_004955441:10,982,307...11,004,789
Ensembl chrNW_004955441:10,982,307...11,009,116
JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: SITOSTEROLEMIA 2 ClinVar PMID:11099417, PMID:11138003, PMID:11907139, PMID:15375183, PMID:17228349, PMID:17976197, PMID:19111681, PMID:20521169, PMID:20543520, PMID:20719861, PMID:21729603, PMID:24033266, PMID:24166850, PMID:24423340, PMID:25665839, PMID:25741868, PMID:26813946, PMID:28203044, PMID:28492532, PMID:28521186, PMID:28771437, PMID:29353225, PMID:29886606, PMID:30985648, PMID:31060161 NCBI chrNW_004955441:10,928,577...10,961,194
Ensembl chrNW_004955441:10,928,343...10,961,194
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11834
    Nutritional and Metabolic Diseases 3432
      disease of metabolism 3432
        lipid metabolism disorder 683
          familial hyperlipidemia 158
            Hypercholesterolemia + 79
            Hyperlipoproteinemias + 33
            Hypertriglyceridemia + 53
            familial chylomicronemia syndrome + 5
            familial combined hyperlipidemia + 14
            familial hypercholesterolemia + 15
            glycogen storage disease IX + 4
            hyperlipoproteinemia type V 1
Path 2
Term Annotations click to browse term
  disease 11834
    Developmental Diseases 8451
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7405
        genetic disease 6976
          inherited metabolic disorder 1897
            lipid metabolism disorder 683
              Dyslipidemias 179
                familial hyperlipidemia 158
                  Hypercholesterolemia + 79
                  Hyperlipoproteinemias + 33
                  Hypertriglyceridemia + 53
                  familial chylomicronemia syndrome + 5
                  familial combined hyperlipidemia + 14
                  familial hypercholesterolemia + 15
                  glycogen storage disease IX + 4
                  hyperlipoproteinemia type V 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.