Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 IEP RGD PMID:17026988, PMID:23185768 RGD:1598533, RGD:21408557 NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Abcb1a ATP binding cassette subfamily B member 1A susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP::2677G>T/A(rs2032582)(human)
CTD PMID:24502637, PMID:26922556 RGD:11574565 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcg5 ATP binding cassette subfamily G member 5 susceptibility IAGP sitosterolemia;DNA:missense mutation: :p.G583C RGD PMID:16026620 RGD:1598659 NCBI chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
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 chr 6:7,961,413...7,980,708
Ensembl chr 6:7,961,413...7,980,708
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing treatment IEP RGD PMID:24308182 RGD:8695929 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16027735 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16027735 NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
JBrowse link
G Alb albumin IAGP DNA:mutation RGD PMID:6468510 RGD:1601160 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Angptl4 angiopoietin-like 4 ISO RGD PMID:15837923, PMID:12401877 RGD:1625354, RGD:1578349 NCBI chr 7:18,627,814...18,634,043
Ensembl chr 7:18,627,808...18,634,079
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:17546600 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Apob apolipoprotein B treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:17658632, PMID:7627691, PMID:15716585 RGD:1578419, RGD:14401726 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 IDA RGD PMID:11116209 RGD:1626277 NCBI chr 4:155,386,367...155,414,034
Ensembl chr 4:155,386,711...155,401,480
JBrowse link
G Apoc2 apolipoprotein C2 susceptibility ISO RGD PMID:1782747 RGD:1599175 NCBI chr 1:80,589,023...80,593,991
Ensembl chr 1:80,589,023...80,594,136
JBrowse link
G Apoc3 apolipoprotein C3 treatment ISO RGD PMID:23542898 RGD:10054091 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Apoe apolipoprotein E treatment ISO
IMP
IDA
CTD Direct Evidence: marker/mechanism CTD PMID:11947894 PMID:12871831 PMID:20530721 PMID:20937366, PMID:15118671, PMID:29459263, PMID:22762542 RGD:1331525, RGD:13703129, RGD:6903856 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Bche butyrylcholinesterase ISO protein:increased expression:serum RGD PMID:15219807 RGD:1601321 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:19525846 RGD:11528561 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:21485068 RGD:5490594 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Crp C-reactive protein IEP protein:increased expression:serum: RGD PMID:24308182 RGD:8695929 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 IEP RGD PMID:23002367 RGD:14700877 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:plasma RGD PMID:8914465 RGD:11060253 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G F7 coagulation factor VII IEP protein:increased expression:plasma (rat) RGD PMID:11776312 RGD:2312300 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:69995 NCBI chr 3:48,442,635...48,451,650
Ensembl chr 3:48,442,635...48,451,650
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 IEP mRNA:increased expression:gastrocnemius RGD PMID:16555472 RGD:1624365 NCBI chr 4:118,852,046...118,901,583
Ensembl chr 4:118,852,062...118,901,591
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 chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 IEP mRNA,protein:increased expression:islet cells:diabetic but not prediabetic Zucker Diabetic Fatty (fa/fa) rats RGD PMID:14697232 RGD:1625074 NCBI chr13:111,946,626...111,996,536
Ensembl chr13:111,926,442...111,972,603
JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B ISO associated with advanced age and Diabetes Mellitus, Type 2 (MeSH:D003924) RGD PMID:15992611 RGD:1626649 NCBI chr20:4,877,638...4,880,112
Ensembl chr20:2,699,712...2,701,815
JBrowse link
G Irs1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10591678 NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
JBrowse link
G Kl Klotho IDA RGD PMID:10892340 RGD:1581732 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
G Lcat lecithin cholesterol acyltransferase IDA RGD PMID:12935429 RGD:1581787 NCBI chr19:37,913,333...37,916,799
Ensembl chr19:37,913,336...37,916,813
JBrowse link
G Ldlr low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11947894 PMID:25619500 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
G Lep leptin IEP mRNA:decreased expression:liver, adipose tissue (rat) RGD PMID:17671736 RGD:10053616 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25222487 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Lipc lipase C, hepatic type IDA
ISO
protein:reduced expression:plasma (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:1883393, PMID:12935429 RGD:1581787 NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20199424 NCBI chr 3:12,608,748...12,686,937
Ensembl chr 3:12,609,574...12,686,869
JBrowse link
G Lpl lipoprotein lipase treatment ISO
IDA
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperlipidemia
CTD
ClinVar
PMID:1598907 PMID:17658632 PMID:30311386, PMID:29931882 RGD:13794383 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
JBrowse link
G Mir125a microRNA 125a ISO RGD PMID:31988048 RGD:21403676 NCBI chr 1:59,704,827...59,704,911
Ensembl chr 1:59,704,827...59,704,911
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO associated with Diabetes Mellitus, Type 2 RGD PMID:16490430 RGD:1642030 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mttp microsomal triglyceride transfer protein IEP RGD PMID:12191589 RGD:1625489 NCBI chr 2:243,366,181...243,407,608
Ensembl chr 2:243,366,181...243,407,608
JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21285402 NCBI chr 8:61,817,258...61,824,023
Ensembl chr 8:61,817,258...61,823,102
JBrowse link
G Nos3 nitric oxide synthase 3 IEP
ISO
protein:increased phosphorylation:aorta
CTD Direct Evidence: marker/mechanism
CTD PMID:11457755, PMID:17895290 RGD:2292129 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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 chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: therapeutic CTD PMID:21640707 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Ppargc1b PPARG coactivator 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17932310 NCBI chr18:56,626,725...56,650,524
Ensembl chr18:56,626,712...56,728,968
JBrowse link
G Rgn regucalcin IMP RGD PMID:15375596 RGD:9590273 NCBI chr  X:1,833,484...1,848,904
Ensembl chr  X:1,833,492...1,848,904
JBrowse link
G Sdc1 syndecan 1 IMP RGD PMID:17403197 RGD:1643125 NCBI chr 6:33,885,576...33,908,038
Ensembl chr 6:33,885,495...33,908,016
JBrowse link
G Serpinc1 serpin family C member 1 IEP protein:increased expression:plasma RGD PMID:17283885 RGD:11035268 NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
JBrowse link
G Serpinf2 serpin family F member 2 IEP RGD PMID:2313941 RGD:1625536 NCBI chr10:62,264,247...62,272,353
Ensembl chr10:62,264,788...62,273,119
JBrowse link
G Shc1 SHC adaptor protein 1 IEP RGD PMID:15044008 RGD:1643177 NCBI chr 2:188,745,503...188,757,066
Ensembl chr 2:188,745,503...188,757,066
JBrowse link
G Slc27a1 solute carrier family 27 member 1 IEP protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle RGD PMID:15281014 RGD:1642794 NCBI chr16:19,997,823...20,016,193
Ensembl chr16:19,999,112...20,016,190
JBrowse link
G Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 IEP mRNA:decreased expression:thoracic aorta RGD PMID:24615205 RGD:9586357 NCBI chr 7:141,355,623...141,366,725
Ensembl chr 7:141,355,994...141,366,732
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:increased expression:plasma: RGD PMID:8914465 RGD:11060253 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment IDA
IEP
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 chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IEP RGD PMID:18159007 RGD:2313110 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Vldlr very low density lipoprotein receptor ISO RGD PMID:10985956 RGD:1625570 NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
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 ClinVar Annotator: match by term: Hyperalphalipoproteinemia 2
ClinVar Annotator: match by OMIM:614028
OMIM
ClinVar
PMID:2022742 PMID:19074352 PMID:24941081 PMID:24941082 PMID:25962519 PMID:28406212 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
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 ClinVar Annotator: match by term: Familial hypercholesterolemia 4
ClinVar Annotator: match by term: Hypercholesterolemia, autosomal recessive
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:603813
OMIM
ClinVar
PMID:4351242 PMID:7628519 PMID:11326085 PMID:11897284 PMID:12016260 PMID:12464675 PMID:12788851 PMID:12958143 PMID:15485476 PMID:15599766 PMID:20124734 PMID:21872251 PMID:22157599 PMID:24033266 PMID:25647241 PMID:25741868 PMID:25911074 PMID:26723464 PMID:27247956 PMID:28492532 PMID:28965616 PMID:29245109 NCBI chr 5:152,964,294...152,987,286
Ensembl chr 5:152,966,591...152,987,211
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 chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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 chr 8:50,559,079...50,561,720
Ensembl chr 8:50,559,126...50,561,736
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 ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE IB ClinVar
OMIM
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 chr 1:80,589,023...80,593,991
Ensembl chr 1:80,589,023...80,594,136
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 chr14:81,367,466...81,426,610
Ensembl chr14:81,367,468...81,426,496
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO RGD PMID:16336518 RGD:1601173 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
JBrowse link
G Apoa2 apolipoprotein A2 ISO protein:increased expression:plasma: RGD PMID:12738753 RGD:1300287 NCBI chr13:89,596,872...89,598,805
Ensembl chr13:89,597,138...89,598,802
JBrowse link
G Apob apolipoprotein B ISO protein:increased expression:plasma
ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb
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: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, PMID:16797745 RGD:1601200 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoc3 apolipoprotein C3 no_association ISO DNA:haplotype, snp:3' utr:g.3175G>C (human) RGD PMID:15863838, PMID:9812922, PMID:9062353 RGD:1601225, RGD:5685676, RGD:5685674 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Apoe apolipoprotein E ISO DNA:missense mutations, haplotype:cds:p.C112R, p.R158C (human) RGD PMID:17127808, PMID:12915220 RGD:1601231, RGD:1578481 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Faslg Fas ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:15063428 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO DNA:haplotype: :rs6031558,rs745975, rs3212198(human) RGD PMID:18340007 RGD:12904697 NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
JBrowse link
G Lipc lipase C, hepatic type ISO RGD PMID:16338252 RGD:1580512 NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to OMIM
ClinVar
PMID:7647785 PMID:7753827 PMID:8199176 PMID:8541837 PMID:8872057 PMID:9550358 PMID:10364086 PMID:10517255 PMID:11260209 PMID:21146168 PMID:22239554 PMID:24033266 PMID:25741868 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma: RGD PMID:18417194 RGD:13207412 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:15262191 RGD:1601645 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
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 chr13:89,797,750...89,805,561
Ensembl chr13:89,797,800...89,805,558
JBrowse link
G Vwf von Willebrand factor ISO protein:increased expression:plasma: RGD PMID:18417194 RGD:13207412 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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 ClinVar Annotator: match by term: Hyperlipoproteinemia, type ID ClinVar
OMIM
PMID:19304573 PMID:20026666 PMID:20124439 PMID:21816778 PMID:22239554 PMID:23806086 PMID:24088041 PMID:24614124 PMID:24847059 PMID:25741868 PMID:28492532 PMID:33223529 NCBI chr 7:116,632,496...116,635,543
Ensembl chr 7:116,632,506...116,634,293
JBrowse link
familial hypercholesterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar PMID:19743957 PMID:20800056 PMID:24497850 PMID:25215231 PMID:25741868 NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Apoa2 apolipoprotein A2 ISO ClinVar Annotator: match by OMIM:143890 OMIM
ClinVar
PMID:12522687 NCBI chr13:89,596,872...89,598,805
Ensembl chr13:89,597,138...89,598,802
JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: Familial hypercholesterolemias
DNA:deletion:promoter, exon:
ClinVar PMID:221546 PMID:1360085 PMID:1424233 PMID:1454832 PMID:1466657 PMID:1493642 PMID:1600334 PMID:1793440 PMID:1977310 PMID:2280177 PMID:2375782 PMID:2563166 PMID:2574033 PMID:2725600 PMID:2843815 PMID:2903181 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:12031600 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: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:25741869 PMID:26020417 PMID:26036859 PMID:26064709 PMID:26332594 PMID:26361156 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, PMID:3627182 RGD:11527221 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
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 chr 8:22,822,412...22,874,670
Ensembl chr 8:22,822,412...22,874,645
JBrowse link
G Ephx2 epoxide hydrolase 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia OMIM
ClinVar
PMID:10862610 PMID:12522687 PMID:14673705 PMID:14732757 PMID:15845398 NCBI chr15:42,757,241...42,794,211
Ensembl chr15:42,757,235...42,794,279
JBrowse link
G Ghr growth hormone receptor ISO ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia OMIM
ClinVar
PMID:25741868 PMID:26467025 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Gk glycerol kinase IDA RGD PMID:10642898 RGD:13702898 NCBI chr  X:54,227,291...54,303,897
Ensembl chr  X:54,227,397...54,303,864
JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar Annotator: match by term: Familial hypercholesterolemias
ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL
ClinVar Annotator: match by OMIM:143890
OMIM
ClinVar
PMID:200368 PMID:1057090 PMID:1301940 PMID:1301956 PMID:1310940 PMID:1315570 PMID:1319734 PMID:1348044 PMID:1352322 PMID:1362925 PMID:1372927 PMID:1446662 PMID:1453433 PMID:1464748 PMID:1493640 PMID:1609792 PMID:1634609 PMID:1677927 PMID:1714262 PMID:1727071 PMID:1734722 PMID:1734910 PMID:1757095 PMID:1830890 PMID:1863993 PMID:1884514 PMID:1952806 PMID:1959928 PMID:1978630 PMID:1978682 PMID:1998642 PMID:1999337 PMID:2029498 PMID:2088165 PMID:2318961 PMID:2324680 PMID:2352257 PMID:2544509 PMID:2565980 PMID:2569482 PMID:2570157 PMID:2572061 PMID:2600087 PMID:2698793 PMID:2726768 PMID:2760198 PMID:2760205 PMID:2777800 PMID:2799589 PMID:2805380 PMID:2831865 PMID:2837085 PMID:2895023 PMID:2901412 PMID:2920733 PMID:2988123 PMID:3012527 PMID:3020025 PMID:3025214 PMID:3155573 PMID:3198114 PMID:3202825 PMID:3263645 PMID:3343347 PMID:3391282 PMID:3425583 PMID:3430554 PMID:3472763 PMID:3475071 PMID:3495735 PMID:3549308 PMID:3572996 PMID:3627182 PMID:3815525 PMID:3818645 PMID:3924410 PMID:3955657 PMID:4061492 PMID:4083361 PMID:4319990 PMID:4750422 PMID:6091915 PMID:6272292 PMID:6288770 PMID:7489239 PMID:7545204 PMID:7548065 PMID:7550239 PMID:7557960 PMID:7573037 PMID:7581403 PMID:7583548 PMID:7586640 PMID:7603991 PMID:7606846 PMID:7616128 PMID:7635461 PMID:7635482 PMID:7649546 PMID:7649549 PMID:7709162 PMID:7718019 PMID:7718023 PMID:7718024 PMID:7749819 PMID:7749829 PMID:7773731 PMID:7789953 PMID:7820934 PMID:7833932 PMID:7866407 PMID:7894220 PMID:7903269 PMID:7903864 PMID:7937987 PMID:7947594 PMID:7979249 PMID:7989866 PMID:8004803 PMID:8054972 PMID:8093663 PMID:8096412 PMID:8098448 PMID:8103503 PMID:8141835 PMID:8168830 PMID:8218110 PMID:8225312 PMID:8292093 PMID:8295321 PMID:8314561 PMID:8347689 PMID:8399083 PMID:8401534 PMID:8409767 PMID:8462973 PMID:8478013 PMID:8535447 PMID:8568489 PMID:8589690 PMID:8599353 PMID:8634338 PMID:8645371 PMID:8645375 PMID:8664907 PMID:8664911 PMID:8678915 PMID:8697568 PMID:8740918 PMID:8784348 PMID:8792825 PMID:8828981 PMID:8828982 PMID:8829662 PMID:8831933 PMID:8844215 PMID:8850176 PMID:8872473 PMID:8882879 PMID:8911609 PMID:8931648 PMID:9003505 PMID:9016531 PMID:9026534 PMID:9039985 PMID:9048913 PMID:9090532 PMID:9104431 PMID:9137885 PMID:9143924 PMID:9147888 PMID:9157944 PMID:9180246 PMID:9184256 PMID:9195230 PMID:9212177 PMID:9222758 PMID:9225977 PMID:9237502 PMID:9237510 PMID:9254862 PMID:9259195 PMID:9261272 PMID:9272705 PMID:9375633 PMID:9399845 PMID:9409298 PMID:9409302 PMID:9412789 PMID:9452078 PMID:9452094 PMID:9452095 PMID:9452118 PMID:9484998 PMID:9500809 PMID:9538514 PMID:9544745 PMID:9544746 PMID:9544850 PMID:9610768 PMID:9654205 PMID:9660059 PMID:9664576 PMID:9671270 PMID:9676383 PMID:9678702 PMID:9684750 PMID:9698020 PMID:9712531 PMID:9727746 PMID:9733232 PMID:9763532 PMID:9767373 PMID:9852677 PMID:9889019 PMID:9925649 PMID:9974426 PMID:10066037 PMID:10089940 PMID:10090473 PMID:10090484 PMID:10200052 PMID:10206683 PMID:10208479 PMID:10208490 PMID:10208499 PMID:10230472 PMID:10407508 PMID:10412552 PMID:10422802 PMID:10422803 PMID:10422804 PMID:10441197 PMID:10447263 PMID:10484771 PMID:10487495 PMID:10532689 PMID:10559517 PMID:10570905 PMID:10611908 PMID:10611909 PMID:10634824 PMID:10657581 PMID:10660340 PMID:10668928 PMID:10704205 PMID:10735632 PMID:10782930 PMID:10790219 PMID:10807540 PMID:10882754 PMID:10884919 PMID:10924730 PMID:10926901 PMID:10978268 PMID:10980548 PMID:11005141 PMID:11013454 PMID:11031227 PMID:11040093 PMID:11052664 PMID:11139254 PMID:11194025 PMID:11194027 PMID:11196104 PMID:11257257 PMID:11295843 PMID:11298688 PMID:11298777 PMID:11310584 PMID:11313767 PMID:11317361 PMID:11317362 PMID:11373616 PMID:11381031 PMID:11389828 PMID:11435110 PMID:11462246 PMID:11472756 PMID:11491306 PMID:11506462 PMID:11585102 PMID:11600564 PMID:11641914 PMID:11642133 PMID:11668627 PMID:11668640 PMID:11675977 PMID:11737238 PMID:11754108 PMID:11792717 PMID:11810272 PMID:11845603 PMID:11851376 PMID:11857755 PMID:11916007 PMID:11933210 PMID:12009418 PMID:12052488 PMID:12112655 PMID:12113284 PMID:12124988 PMID:12205127 PMID:12227864 PMID:12406975 PMID:12414836 PMID:12417285 PMID:12436241 PMID:12442279 PMID:12459547 PMID:12485531 PMID:12492446 PMID:12522687 PMID:12553167 PMID:12575931 PMID:12673584 PMID:12705331 PMID:12730724 PMID:12820708 PMID:12837857 PMID:12910492 PMID:14209286 PMID:14508510 PMID:14512370 PMID:14570618 PMID:14616764 PMID:14624402 PMID:14675545 PMID:14749324 PMID:14756670 PMID:14767901 PMID:14974088 PMID:14993243 PMID:15015036 PMID:15035285 PMID:15100232 PMID:15135252 PMID:15172466 PMID:15199436 PMID:15200491 PMID:15241806 PMID:15256764 PMID:15303010 PMID:15359125 PMID:15477777 PMID:15494314 PMID:15497035 PMID:15523646 PMID:15528480 PMID:15556092 PMID:15556093 PMID:15556094 PMID:15576851 PMID:15633194 PMID:15701167 PMID:15741231 PMID:15823276 PMID:15823280 PMID:15823288 PMID:15842735 PMID:15864114 PMID:15885240 PMID:15890894 PMID:15936313 PMID:15952897 PMID:15998910 PMID:16092059 PMID:16099208 PMID:16159606 PMID:16183066 PMID:16205024 PMID:16211558 PMID:16250003 PMID:16286607 PMID:16314194 PMID:16343504 PMID:16389549 PMID:16465405 PMID:16530458 PMID:16542394 PMID:16627557 PMID:16740646 PMID:16792510 PMID:16796766 PMID:16801348 PMID:16806138 PMID:17044844 PMID:17087781 PMID:17094996 PMID:17142622 PMID:17196209 PMID:17335829 PMID:17347910 PMID:17399720 PMID:17406740 PMID:17426749 PMID:17445538 PMID:17539906 PMID:17625505 PMID:17673191 PMID:17694954 PMID:17765246 PMID:17935672 PMID:17955342 PMID:17964958 PMID:18022922 PMID:18096825 PMID:18206115 PMID:18239150 PMID:18243212 PMID:18247305 PMID:18263977 PMID:18279815 PMID:18325082 PMID:18339137 PMID:18355452 PMID:18400033 PMID:18503695 PMID:18607183 PMID:18648394 PMID:18677035 PMID:18700895 PMID:18701038 PMID:18718593 PMID:18757057 PMID:18847225 PMID:18929537 PMID:19001363 PMID:19007590 PMID:19013141 PMID:19020990 PMID:19026292 PMID:19040724 PMID:19062533 PMID:19073363 PMID:19118540 PMID:19148831 PMID:19208450 PMID:19224862 PMID:19318025 PMID:19319977 PMID:19361455 PMID:19371225 PMID:19411563 PMID:19446849 PMID:19467224 PMID:19487412 PMID:19520913 PMID:19538517 PMID:19602640 PMID:19674976 PMID:19717150 PMID:19797716 PMID:19837725 PMID:19843101 PMID:20018285 PMID:20019594 PMID:20045108 PMID:20144596 PMID:20145306 PMID:20217239 PMID:20236128 PMID:20308432 PMID:20428891 PMID:20452591 PMID:20506408 PMID:20538126 PMID:20599862 PMID:20663204 PMID:20703241 PMID:20736250 PMID:20809525 PMID:20828696 PMID:21145767 PMID:21146822 PMID:21157333 PMID:21276076 PMID:21310417 PMID:21376320 PMID:21382890 PMID:21418584 PMID:21457052 PMID:21475731 PMID:21511053 PMID:21531209 PMID:21538688 PMID:21642693 PMID:21722902 PMID:21865347 PMID:21868016 PMID:21872251 PMID:21925044 PMID:21925660 PMID:21935675 PMID:21955034 PMID:21990180 PMID:22089669 PMID:22095935 PMID:22129472 PMID:22160468 PMID:22220933 PMID:22294733 PMID:22311046 PMID:22353362 PMID:22390909 PMID:22417841 PMID:22425645 PMID:22487947 PMID:22509010 PMID:22528129 PMID:22544571 PMID:22683370 PMID:22691586 PMID:22698793 PMID:22859806 PMID:22881376 PMID:22883975 PMID:22910581 PMID:22923420 PMID:22998978 PMID:23021490 PMID:23054246 PMID:23064986 PMID:23130880 PMID:23155708 PMID:23158915 PMID:23340035 PMID:23345538 PMID:23369702 PMID:23375686 PMID:23415438 PMID:23430853 PMID:23510778 PMID:23535506 PMID:23669246 PMID:23680767 PMID:23815734 PMID:23820649 PMID:23833242 PMID:24014831 PMID:24033266 PMID:24055113 PMID:24075752 PMID:24082139 PMID:24088637 PMID:24163242 PMID:24234650 PMID:24249837 PMID:24281370 PMID:24284361 PMID:24336170 PMID:24338390 PMID:24373485 PMID:24420163 PMID:24450200 PMID:24503134 PMID:24507775 PMID:24529145 PMID:24585268 PMID:24627126 PMID:24671153 PMID:24722143 PMID:24918045 PMID:24956927 PMID:24988984 PMID:25014035 PMID:25043216 PMID:25154303 PMID:25234566 PMID:25248394 PMID:25282520 PMID:25333069 PMID:25378237 PMID:25386756 PMID:25412742 PMID:25414273 PMID:25437892 PMID:25461735 PMID:25463123 PMID:25487149 PMID:25525159 PMID:25545329 PMID:25606447 PMID:25624525 PMID:25637381 PMID:25647241 PMID:25682026 PMID:25741862 PMID:25741868 PMID:25741870 PMID:25741871 PMID:25741872 PMID:25741873 PMID:25741874 PMID:25807990 PMID:25846081 PMID:25911074 PMID:25921077 PMID:25936317 PMID:25936346 PMID:25962062 PMID:26020417 PMID:26036859 PMID:26046366 PMID:26077743 PMID:26081744 PMID:26220972 PMID:26238499 PMID:26327206 PMID:26332594 PMID:26342331 PMID:26343872 PMID:26361156 PMID:26415676 PMID:26433113 PMID:26467025 PMID:26510755 PMID:26608663 PMID:26632531 PMID:26633542 PMID:26723464 PMID:26748104 PMID:26755827 PMID:26802169 PMID:26875521 PMID:26892515 PMID:26894473 PMID:26927322 PMID:27050191 PMID:27135400 PMID:27153395 PMID:27175606 PMID:27206935 PMID:27247956 PMID:27294413 PMID:27497240 PMID:27542166 PMID:27578104 PMID:27578127 PMID:27578128 PMID:27678436 PMID:27680772 PMID:27765764 PMID:27783906 PMID:27784735 PMID:27816806 PMID:27821657 PMID:27824480 PMID:27828139 PMID:27830735 PMID:27831900 PMID:27854218 PMID:27878139 PMID:27884173 PMID:27919364 PMID:27932355 PMID:27940769 PMID:27998977 PMID:28008010 PMID:28028493 PMID:28104544 PMID:28126585 PMID:28145427 PMID:28159968 PMID:28161202 PMID:28169869 PMID:28235710 PMID:28349240 PMID:28379029 PMID:28391882 PMID:28458923 PMID:28475941 PMID:28492532 PMID:28502495 PMID:28502510 PMID:28645073 PMID:28873201 PMID:28874442 PMID:28895539 PMID:28932795 PMID:28964736 PMID:28965616 PMID:28993407 PMID:29172679 PMID:29213121 PMID:29233637 PMID:29269200 PMID:29284604 PMID:29290422 PMID:29292049 PMID:29353225 PMID:29399563 PMID:29572815 PMID:29576406 PMID:29693183 PMID:29720182 PMID:29802317 PMID:29874871 PMID:30108616 PMID:30270055 PMID:30270081 PMID:30270083 PMID:30270084 PMID:30293936 PMID:30311386 PMID:30333156 PMID:30415195 PMID:30583242 PMID:30586733 PMID:30592178 PMID:30592719 PMID:30745730 PMID:30795984 PMID:30876527 PMID:31106925 PMID:31345425 PMID:31491741 PMID:31689621 PMID:31947532 PMID:32113782 PMID:165423944 PMID:220236128 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
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 chr 5:152,964,294...152,987,286
Ensembl chr 5:152,966,591...152,987,211
JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: Familial hypercholesterolemias
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 chr 5:126,031,368...126,053,726
Ensembl chr 5:126,031,368...126,053,726
JBrowse link
G Pon2 paraoxonase 2 ISO DNA:missense mutation:cds:p.S311C (human) RGD PMID:16776623 RGD:1642625 NCBI chr 4:30,344,705...30,380,119
Ensembl chr 4:30,344,709...30,380,119
JBrowse link
G Ppp1r17 protein phosphatase 1, regulatory subunit 17 ISO OMIM NCBI chr 4:86,275,130...86,292,435
Ensembl chr 4:86,275,717...86,292,431
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:serum: RGD PMID:19004443 RGD:13207334 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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 chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
JBrowse link
G Stap1 signal transducing adaptor family member 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:26036859 NCBI chr14:23,575,400...23,604,984
Ensembl chr14:23,576,085...23,604,834
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 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: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 chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
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 chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
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 ClinVar Annotator: match by term: Lipase deficiency combined
ClinVar Annotator: match by OMIM:246650
OMIM
ClinVar
PMID:17994020 PMID:19820022 PMID:28492532 NCBI chr10:14,945,185...15,031,855
Ensembl chr10:14,945,265...15,031,942
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 chr 8:50,559,079...50,561,720
Ensembl chr 8:50,559,126...50,561,736
JBrowse link
G Apoc2 apolipoprotein C2 ISO ClinVar Annotator: match by OMIM:207750
ClinVar Annotator: match by term: C-II ANAPOLIPOPROTEINEMIA
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE IB
ClinVar
CTD
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 chr 1:80,589,023...80,593,991
Ensembl chr 1:80,589,023...80,594,136
JBrowse link
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Hyperlipoproteinemia, type I
ClinVar Annotator: match by term: Hyperlipemia essential familial
DNA:missense mutation:exon:p.D156G (human)
ClinVar Annotator: match by OMIM:238600
ClinVar
OMIM
PMID:1351946 PMID:1400331 PMID:1479292 PMID:1505655 PMID:1511985 PMID:1512512 PMID:1530621 PMID:1562620 PMID:1576758 PMID:1598907 PMID:1639392 PMID:1674945 PMID:1702428 PMID:1731801 PMID:1737848 PMID:1752947 PMID:1872917 PMID:1907278 PMID:1937490 PMID:1969408 PMID:1975597 PMID:2010533 PMID:2038366 PMID:2110364 PMID:2121025 PMID:2294743 PMID:2349938 PMID:2394828 PMID:2536938 PMID:2914262 PMID:6645961 PMID:7647785 PMID:7818530 PMID:7906986 PMID:8096693 PMID:8099055 PMID:8135797 PMID:8199176 PMID:8228642 PMID:8288243 PMID:8325986 PMID:8486765 PMID:8541837 PMID:8567671 PMID:8843465 PMID:8858123 PMID:8872057 PMID:9225235 PMID:9401010 PMID:9714430 PMID:10364086 PMID:10407505 PMID:10517255 PMID:10735636 PMID:11134145 PMID:11334614 PMID:11893776 PMID:15840743 PMID:15877202 PMID:16174715 PMID:16972177 PMID:17717288 PMID:18068174 PMID:18350203 PMID:18649389 PMID:21146168 PMID:21159338 PMID:22095987 PMID:22129523 PMID:22239554 PMID:23246289 PMID:23484243 PMID:24033266 PMID:24212298 PMID:24291057 PMID:24793350 PMID:25741868 PMID:25966443 PMID:26342331 PMID:27055971 PMID:27573733 PMID:28438574 PMID:28492532 PMID:28606150 PMID:29153744 PMID:29288010 PMID:29748148 PMID:30150141 PMID:30311386, PMID:16431216, PMID:9973300, PMID:1907278 RGD:1580533, RGD:1556752, RGD:1302536 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
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
IAGP
ClinVar Annotator: match by term: Glycogen storage disease type IXa1
DNA:mutations:multiple
DNA:missense mutations:multiple
ClinVar Annotator: match by term: GSD VIII
ClinVar Annotator: match by term: Glycogen storage disease IXa2
ClinVar Annotator: match by OMIM:306000
OMIM
ClinVar
PMID:2303074 PMID:5306139 PMID:7711737 PMID:7847371 PMID:7959740 PMID:8733133 PMID:8733134 PMID:9600238 PMID:9835437 PMID:9870210 PMID:10330341 PMID:11286390 PMID:12862311 PMID:17689125 PMID:21634085 PMID:21646031 PMID:21911307 PMID:22899091 PMID:23578772 PMID:24055370 PMID:25070466 PMID:25266922 PMID:25741868 PMID:25741869 PMID:26157701 PMID:27103379 PMID:28468868 PMID:28492532 PMID:28600779 PMID:28627441 PMID:30659246, PMID:28627441, PMID:8733134, PMID:28283841 RGD:26884355, RGD:26884354, RGD:26884353 NCBI chr  X:35,970,650...36,926,616 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 ClinVar Annotator: match by term: Glycogen storage disease IXb
ClinVar Annotator: match by OMIM:261750
OMIM
ClinVar
PMID:9215682 PMID:9402963 PMID:12825073 PMID:17689125 PMID:18950708 PMID:21646031 PMID:25070466 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr19:22,031,684...22,281,788
Ensembl chr19:22,033,228...22,281,778
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 ClinVar Annotator: match by OMIM:613027
ClinVar Annotator: match by term: Glycogen storage disease IXc
ClinVar Annotator: match by null
ClinVar
OMIM
PMID:2558039 PMID:6962066 PMID:7562285 PMID:8896567 PMID:9384616 PMID:10905889 PMID:12930917 PMID:17689125 PMID:24102521 PMID:24389071 PMID:25741868 PMID:28492532 NCBI chr 1:199,019,298...199,032,053
Ensembl chr 1:199,019,289...199,032,052
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 ClinVar Annotator: match by term: Glycogen storage disease IXd
ClinVar Annotator: match by term: GSD IXd
ClinVar Annotator: match by OMIM:300559
OMIM
ClinVar
PMID:2252364 PMID:7874115 PMID:8145916 PMID:9731190 PMID:12825073 PMID:15637709 PMID:18401027 PMID:22238410 PMID:25741868 PMID:28492532 NCBI chr  X:72,377,020...72,515,385
Ensembl chr  X:72,377,021...72,515,366
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 chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha susceptibility ISO ClinVar Annotator: match by term: Hyperapobetalipoproteinemia, susceptibility to ClinVar
OMIM
PMID:10828087 PMID:12006394 PMID:15309680 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
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
IEP
mRNA:increased expression:liver, jejunum (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:22022523, PMID:15118671, PMID:24619822 RGD:1331525, RGD:19165129 NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Abcb11 ATP binding cassette subfamily B member 11 ISO RGD PMID:21726512 RGD:14688050 NCBI chr 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO DNA:polymorphism: :p.M429V RGD PMID:15816807 RGD:1601094 NCBI chr 6:7,961,413...7,980,708
Ensembl chr 6:7,961,413...7,980,708
JBrowse link
G Acat2 acetyl-CoA acetyltransferase 2 ISO RGD PMID:11100118 RGD:1556516 NCBI chr 1:47,972,399...47,992,654
Ensembl chr 1:47,972,399...47,992,653
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated IEP RGD PMID:17403193 RGD:1601171 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
JBrowse link
G Apoa1 apolipoprotein A1 ISO DNA:polymorphisms: :-75G>A, 83C>T (human) RGD PMID:16309370 RGD:1601184 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apob apolipoprotein B IEP
ISO
ClinVar Annotator: match by term: Hypercholesterolemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1600334 PMID:24033266 PMID:25741868 PMID:26415676 PMID:26467025 PMID:27578127 PMID:28492532, PMID:16581047 RGD:1599167 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoc2 apolipoprotein C2 susceptibility ISO associated with Hypertriglyceridemia;DNA:missense mutation: :p.K38Q (human) RGD PMID:8490626 RGD:1601207 NCBI chr 1:80,589,023...80,593,991
Ensembl chr 1:80,589,023...80,594,136
JBrowse link
G Apoc3 apolipoprotein C3 ISO RGD PMID:2879788 RGD:1578447 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
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: Hypercholesterolemia
CTD Direct Evidence: marker/mechanism
associated with Kidney Failure, Chronic; DNA:missense mutations, haplotype:cds:p.C130R, p.C176R (human)
ClinVar
CTD
PMID:2992507 PMID:3243553 PMID:6300187 PMID:9649566 PMID:11397713 PMID:16103896 PMID:16143024 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:21043830 PMID:22022523 PMID:22228805 PMID:22992668 PMID:25741868, PMID:17217375, PMID:28808185, PMID:21357213, PMID:1411543 RGD:1601229, RGD:13703132, RGD:6903838, RGD:734968 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Atm ATM serine/threonine kinase susceptibility ISO RGD PMID:15863839 RGD:1601249 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Casp3 caspase 3 IEP RGD PMID:24484682 RGD:13782354 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp9 caspase 9 IEP RGD PMID:24484682 RGD:13782354 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:10946357 RGD:11040931 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd40 CD40 molecule treatment IEP
IDA
protein:increased expression:serum RGD PMID:21574786, PMID:21574786 RGD:7248754, RGD:7248754 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand treatment ISO
IEP
IDA
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:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Ces1d carboxylesterase 1D ISO CTD Direct Evidence: therapeutic CTD PMID:12773168 NCBI chr19:15,195,514...15,239,827
Ensembl chr19:15,033,108...15,239,821
JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:30311386 NCBI chr15:28,612,932...28,672,574
Ensembl chr15:28,612,932...28,672,569
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21852083 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Cpb2 carboxypeptidase B2 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:16123492 RGD:2313641 NCBI chr15:57,290,849...57,339,762
Ensembl chr15:57,290,849...57,339,760
JBrowse link
G Csf1 colony stimulating factor 1 IEP RGD PMID:9158105 RGD:1641957 NCBI chr 2:210,522,370...210,550,546
Ensembl chr 2:210,522,375...210,550,560
JBrowse link
G Ctf1 cardiotrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21803294 NCBI chr 1:199,162,319...199,168,296
Ensembl chr 1:199,163,086...199,168,296
JBrowse link
G Cyp51 cytochrome P450, family 51 IEP mRNA:decreased expression:liver RGD PMID:16472823 RGD:13782194 NCBI chr 4:27,175,564...27,194,018
Ensembl chr 4:27,175,243...27,194,018
JBrowse link
G Cyp7a1 cytochrome P450 family 7 subfamily A member 1 ISO
IEP
CTD Direct Evidence: therapeutic
mRNA:decreased expression:liver
CTD PMID:8245718, PMID:16472823 RGD:13782194 NCBI chr 5:19,358,734...19,368,431
Ensembl chr 5:19,358,734...19,368,431
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15486036 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Eng endoglin treatment ISO protein:increased expression, aortic root, aortic arch, endothelium (mouse) RGD PMID:17901886, PMID:17901886 RGD:7257552, RGD:7257552 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Fbxw4 F-box and WD repeat domain containing 4 ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:30311386 NCBI chr 1:265,318,526...265,420,503
Ensembl chr 1:265,318,526...265,420,503
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO associated with Carcinoma, Ductal, Breast RGD PMID:15491965 RGD:8655598 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment IEP RGD PMID:21966115 RGD:10449170 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gsr glutathione-disulfide reductase treatment IEP
IDA
RGD PMID:24770475, PMID:24120393 RGD:10401874, RGD:10401896 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
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 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO
IEP
IDA
mRNA:decreased expression:liver (rat)
mRNA:increased expression:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:8593127, PMID:1611649, PMID:24619822, PMID:25168180, PMID:17250646 RGD:5508480, RGD:19165129, RGD:13782271, RGD:5508696 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
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 chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
JBrowse link
G Hp haptoglobin ISO protein:increased expression:plasma RGD PMID:16944942 RGD:1626342 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:12921987 RGD:1624216 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:17330503 RGD:1626623 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Itih4 inter-alpha-trypsin inhibitor heavy chain 4 susceptibility ISO ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to ClinVar PMID:14661079, PMID:14661079 RGD:1627650 NCBI chr16:6,970,367...6,985,538
Ensembl chr16:6,970,342...6,985,579
JBrowse link
G Ldlr low density lipoprotein receptor IEP
ISO
IMP
ClinVar Annotator: match by term: Hypercholesterolaemia
ClinVar Annotator: match by term: Hypercholesterolemia
protein:decreased expression: liver
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1301940 PMID:1301956 PMID:1352322 PMID:1734910 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:9544745 PMID:9544746 PMID:9654205 PMID:9664576 PMID:9676383 PMID:9698020 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: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:16159606 PMID:16250003 PMID:16314194 PMID:16389549 PMID:16542394 PMID:16627557 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: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:21722902 PMID:21865347 PMID:21925044 PMID:21935675 PMID:21990180 PMID:22294733 PMID:22353362 PMID:22390909 PMID:22698793 PMID:22881376 PMID:22883975 PMID:22884763 PMID:22910581 PMID:22923420 PMID:23054246 PMID:23064986 PMID:23130880 PMID:23375686 PMID:23535506 PMID:23669246 PMID:23680767 PMID:23833242 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: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: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:28492532 PMID:28502495 PMID:28502510 PMID:28965616 PMID:29172679 PMID:29353225 PMID:29874871 PMID:30293936 PMID:30311386 PMID:30333156 PMID:30583242 PMID:30592178 PMID:30795984 PMID:31345425, PMID:16741953, PMID:20028367, PMID:27378433, PMID:28469073 RGD:1581819, RGD:21410185, RGD:12910104, RGD:12910100 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
G Ldlrem1 low density lipoprotein receptor; ZFN induced mutant 1 IMP RGD PMID:27378433 RGD:12910104
G Ldlrem1Sage low density lipoprotein receptor; ZFN induced mutant 1, Sage IMP RGD PMID:28469073 RGD:12910100
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO RGD PMID:15599766 RGD:1626107 NCBI chr 5:152,964,294...152,987,286
Ensembl chr 5:152,966,591...152,987,211
JBrowse link
G Lep leptin ISO
IMP
CTD Direct Evidence: marker/mechanism CTD PMID:25086370, PMID:22948215 RGD:12904911 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lepem1Sage leptin; zinc finger nuclease induced mutant1, Sage IMP RGD PMID:22948215 RGD:12904911
G Lipc lipase C, hepatic type ISO
IDA
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 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
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 chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
JBrowse link
G Lss lanosterol synthase ISO mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271 NCBI chr20:12,844,522...12,870,474
Ensembl chr20:12,842,884...12,870,497
JBrowse link
G Mif macrophage migration inhibitory factor IEP mRNA:increased expression:glomerulus RGD PMID:9158105 RGD:1641957 NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
JBrowse link
G Mir223 microRNA 223 ISO RGD PMID:25246565 RGD:21408582 NCBI chr  X:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271 NCBI chr19:55,258,910...55,268,933
Ensembl chr19:55,258,905...55,268,951
JBrowse link
G Mylk myosin light chain kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21052790 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14871415 NCBI chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300
JBrowse link
G Nox1 NADPH oxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20832062 NCBI chr  X:104,909,328...104,932,508
Ensembl chr  X:104,909,326...104,932,508
JBrowse link
G Npc1l1 NPC1 like intracellular cholesterol transporter 1 ISO RGD PMID:15671032 RGD:1642184 NCBI chr14:86,345,946...86,560,694
Ensembl chr14:86,345,953...86,560,694
JBrowse link
G Npy neuropeptide Y ISO associated with Obesity;DNA:missense mutation:cds:p.L7P (human) RGD PMID:11689216 RGD:1580177 NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
JBrowse link
G Nr4a1 nuclear receptor subfamily 4, group A, member 1 IMP compared to FHH RGD PMID:24722447 RGD:12910103 NCBI chr 7:142,899,358...142,920,216
Ensembl chr 7:142,905,758...142,920,216
JBrowse link
G Nr4a1m1Mcwi nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin IMP compared to FHH RGD PMID:24722447 RGD:12910103
G Nr4a3 nuclear receptor subfamily 4, group A, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16005304 NCBI chr 5:63,781,801...63,822,890
Ensembl chr 5:63,781,801...63,821,637
JBrowse link
G Pappa1 pappalysin 1 ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:15531533, PMID:14661010 RGD:1642328, RGD:1642329 NCBI chr 5:80,919,932...81,153,904
Ensembl chr 5:80,920,568...81,150,940
JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12730697 NCBI chr 5:126,031,368...126,053,726
Ensembl chr 5:126,031,368...126,053,726
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16229851 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Ppp1r17 protein phosphatase 1, regulatory subunit 17 ISO ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to ClinVar PMID:12955585 NCBI chr 4:86,275,130...86,292,435
Ensembl chr 4:86,275,717...86,292,431
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:28492532 PMID:30311386 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Scap SREBF chaperone IEP protein:increased expression:liver RGD PMID:16741953 RGD:1581819 NCBI chr 8:118,551,869...118,628,650
Ensembl chr 8:118,570,503...118,628,651
JBrowse link
G Scarb1 scavenger receptor class B, member 1 ISO RGD PMID:15967843 RGD:1580004 NCBI chr12:36,694,952...36,761,445
Ensembl chr12:36,694,960...36,761,455
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 chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
JBrowse link
G Sele selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chr13:82,355,234...82,365,323
Ensembl chr13:82,355,471...82,365,341
JBrowse link
G Serpinf2 serpin family F member 2 ISO protein:decreased expression:serum RGD PMID:1384011 RGD:1625534 NCBI chr10:62,264,247...62,272,353
Ensembl chr10:62,264,788...62,273,119
JBrowse link
G Soat2 sterol O-acyltransferase 2 susceptibility ISO RGD PMID:11100118 RGD:1556516 NCBI chr 7:143,754,892...143,767,989
Ensembl chr 7:143,754,892...143,767,989
JBrowse link
G Sqle squalene epoxidase ISO mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271 NCBI chr 7:99,609,929...99,624,803
Ensembl chr 7:99,609,191...99,624,732
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 IEP protein:altered localization:liver RGD PMID:16741953 RGD:1581819 NCBI chr10:46,570,996...46,593,021
Ensembl chr10:46,570,996...46,593,009
JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO
IEP
protein:altered localization:liver
DNA:mutations:exon:p.V623M, p.R645Q (human)
DNA:polymorphism: :1784G>C (human)
RGD PMID:18095312, PMID:16741953, PMID:11950857, PMID:15547298 RGD:2308813, RGD:1581819, RGD:1625197, RGD:1581415 NCBI chr 7:123,381,082...123,438,605
Ensembl chr 7:123,381,077...123,438,603
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Vegfa vascular endothelial growth factor A ISO associated with Carcinoma, Ductal, Breast RGD PMID:15491965 RGD:8655598 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vldlr very low density lipoprotein receptor ISO RGD PMID:8636110 RGD:1625573 NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
JBrowse link
Hypercholesterolemia, Autosomal Dominant, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 ClinVar PMID:25741868 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 3
ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3
ClinVar Annotator: match by OMIM:603776
OMIM
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: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:29083407 PMID:29127338 PMID:29259136 PMID:29261184 PMID:29438441 PMID:29459468 PMID:29593013 PMID:29982529 PMID:29997226 PMID:30779729 PMID:31106297 PMID:31386798 NCBI chr 5:126,031,368...126,053,726
Ensembl chr 5:126,031,368...126,053,726
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 chr13:89,797,750...89,805,561
Ensembl chr13:89,797,800...89,805,558
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 chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO DNA:polymorphism: :p.Q27E RGD PMID:17020471 RGD:1601121 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Apoa1 apolipoprotein A1 ISO DNA:polymorphism:promoter:-75G>A (human) RGD PMID:9699897 RGD:1601186 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apoa2 apolipoprotein A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12522687 NCBI chr13:89,596,872...89,598,805
Ensembl chr13:89,597,138...89,598,802
JBrowse link
G Apoa4 apolipoprotein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B
ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:144010
ClinVar
CTD
OMIM
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: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, PMID:17380167, PMID:9603795, PMID:12730697 RGD:1626106, RGD:1578415, RGD:1580998 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoc3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
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
ClinVar
CTD
PMID:1301940 PMID:1301956 PMID:1319734 PMID:1352322 PMID:1453433 PMID:1464748 PMID:1493640 PMID:1734910 PMID:1830890 PMID:1884514 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: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: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: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:21642693 PMID:21722902 PMID:21865347 PMID:21925044 PMID:21935675 PMID:21990180 PMID:22095935 PMID:22294733 PMID:22353362 PMID:22390909 PMID:22487947 PMID:22698793 PMID:22859806 PMID:22881376 PMID:22883975 PMID:23054246 PMID:23064986 PMID:23155708 PMID:23375686 PMID:23510778 PMID:23669246 PMID:23680767 PMID:23833242 PMID:24014831 PMID:24033266 PMID:24075752 PMID:24281370 PMID:24507775 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: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:30795984 PMID:31345425 PMID:220236128, PMID:1867200, PMID:16796766, PMID:15118671 RGD:5490248, RGD:1581824, RGD:1331525 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO RGD PMID:17380167 RGD:1626106 NCBI chr 5:152,964,294...152,987,286
Ensembl chr 5:152,966,591...152,987,211
JBrowse link
G Lipc lipase C, hepatic type ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:16280123 RGD:1642031 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mttp microsomal triglyceride transfer protein ISO RGD PMID:17215532 RGD:1625482 NCBI chr 2:243,366,181...243,407,608
Ensembl chr 2:243,366,181...243,407,608
JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 severity ISO ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia
DNA:missense mutation:cds:p.D374Y (human)
DNA:missense mutations:cds:p.S127R, p.F216L (human)
ClinVar PMID:15654334 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, PMID:17380167, PMID:14727179, PMID:15772090, PMID:12730697 RGD:1626106, RGD:1581002, RGD:1581001, RGD:1580998 NCBI chr 5:126,031,368...126,053,726
Ensembl chr 5:126,031,368...126,053,726
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 PMID:16238680 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Pon2 paraoxonase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 4:30,344,705...30,380,119
Ensembl chr 4:30,344,709...30,380,119
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 chr 8:50,559,079...50,561,720
Ensembl chr 8:50,559,126...50,561,736
JBrowse link
G Apoc3 apolipoprotein C3 ISO RGD PMID:2879788 RGD:1578447 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: APOE5 VARIANT
ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia
ClinVar Annotator: match by term: BROAD-BETALIPOPROTEINEMIA
DNA:missense mutation:cds:p.R158C (human)
DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human)
ClinVar Annotator: match by term: FAMILIAL HYPERCHOLESTEROLEMIA WITH HYPERLIPEMIA
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia, UMLS MESH term: Broad-beta Hyperlipoproteinemia
ClinVar
OMIM
CTD
PMID:1356443 PMID:1360898 PMID:1361196 PMID:1713245 PMID:2101409 PMID:2313204 PMID:2556398 PMID:2992507 PMID:3029073 PMID:3038959 PMID:3243553 PMID:3721502 PMID:3771793 PMID:6300187 PMID:6313758 PMID:6795720 PMID:7175379 PMID:7635945 PMID:9649566 PMID:12506591 PMID:15096402 PMID:16103896 PMID:16143024 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:22992668 PMID:25741868 PMID:28492532, PMID:15118671, PMID:7175379, PMID:199847 RGD:1331525, RGD:14401584, RGD:12880367 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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 chr 8:50,559,079...50,561,720
Ensembl chr 8:50,559,126...50,561,736
JBrowse link
G Creb3l3 cAMP responsive element binding protein 3-like 3 ISO ClinVar Annotator: match by term: Familial hypertriglyceridemia ClinVar PMID:21666694 NCBI chr 7:11,490,852...11,499,287
Ensembl chr 7:11,490,852...11,499,282
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 ClinVar Annotator: match by OMIM:144650 OMIM
ClinVar
PMID:16200213 NCBI chr 8:50,559,079...50,561,720
Ensembl chr 8:50,559,126...50,561,736
JBrowse link
Hyperlipoproteinemias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO GAD PMID:15118671 RGD:1331525 NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:blood plasma (human) RGD PMID:226830 RGD:5685673 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
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 chr 8:50,559,079...50,561,720
Ensembl chr 8:50,559,126...50,561,736
JBrowse link
G Apoc2 apolipoprotein C2 susceptibility ISO protein:increased expression:serum
DNA:missense mutation: :p.L72P (human)
RGD PMID:1468157, PMID:16153625 RGD:1601208, RGD:1601204 NCBI chr 1:80,589,023...80,593,991
Ensembl chr 1:80,589,023...80,594,136
JBrowse link
G Apoc3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2022742 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Apoh apolipoprotein H ISO RGD PMID:6613192 RGD:2313992 NCBI chr10:96,640,013...96,653,939
Ensembl chr10:96,639,924...96,653,938
JBrowse link
G Lipc lipase C, hepatic type IDA
ISO
associated with Nephrosis; protein:decreased expression:plasma (rat)
CTD Direct Evidence: marker/mechanism
associated with Obesity and Diabetes; DNA:transition:promoter:-514C>T (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human)
CTD PMID:18160998, PMID:6480830, PMID:15941898, PMID:11427226 RGD:2308798, RGD:2308829, RGD:2308834 NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G Pon1 paraoxonase 1 treatment IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:15324535, PMID:11015468, PMID:15324535 RGD:731237, RGD:8547684 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:10828087 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Serpinf2 serpin family F member 2 ISO RGD PMID:6121140 RGD:1625537 NCBI chr10:62,264,247...62,272,353
Ensembl chr10:62,264,788...62,273,119
JBrowse link
Hypertriglyceridemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acot1 acyl-CoA thioesterase 1 treatment IDA RGD PMID:23994635 RGD:13831127 NCBI chr 6:107,485,088...107,493,082
Ensembl chr 6:107,485,249...107,493,798
JBrowse link
G Acp1 acid phosphatase 1 ISO associated with Obesity RGD PMID:12409270 RGD:1625288 NCBI chr 6:49,836,064...49,851,714
Ensembl chr 6:49,836,075...49,851,714
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with HIV Infections RGD PMID:21595566 RGD:8694463 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO GAD PMID:15118671 RGD:1331525 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Ahsg alpha-2-HS-glycoprotein ISO protein:increased expression:serum RGD PMID:19228823 RGD:2313809 NCBI chr11:81,711,269...81,717,594 JBrowse link
G Angptl3 angiopoietin-like 3 ISO RGD PMID:12672813 RGD:1578347 NCBI chr 5:117,698,590...117,706,729
Ensembl chr 5:117,698,764...117,705,808
JBrowse link
G Angptl4 angiopoietin-like 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28842503 NCBI chr 7:18,627,814...18,634,043
Ensembl chr 7:18,627,808...18,634,079
JBrowse link
G Apoa1 apolipoprotein A1 no_association ISO DNA:polymorphism:promoter:-75G>A RGD PMID:7910586 RGD:1601187 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apoa2 apolipoprotein A2 ISO DNA:polymorphism RGD PMID:9489233 RGD:1601190 NCBI chr13:89,596,872...89,598,805
Ensembl chr13:89,597,138...89,598,802
JBrowse link
G Apoa4 apolipoprotein A4 ISO human gene in mouse model RGD PMID:2167514 RGD:5685672 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
JBrowse link
G Apoa5 apolipoprotein A5 IEP
ISO
ClinVar Annotator: match by term: Hypertriglyceridemia, susceptibility to
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C (human)
ClinVar
CTD
PMID:11588264 PMID:12417524 PMID:12417525 PMID:12915450 PMID:20657596 PMID:23151256 PMID:23307945 PMID:24387992 PMID:25741868, PMID:16238453, PMID:12818421, PMID:18468520 RGD:2313328, RGD:1578414, RGD:2313317 NCBI chr 8:50,559,079...50,561,720
Ensembl chr 8:50,559,126...50,561,736
JBrowse link
G Apob apolipoprotein B IEP
ISO
protein:increased expression:plasma (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:20657596, PMID:8121310 RGD:11353966 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoc1 apolipoprotein C1 ISO protein:increased expression:plasma RGD PMID:3757210 RGD:2313953 NCBI chr 1:80,606,638...80,609,921
Ensembl chr 1:80,606,638...80,609,921
JBrowse link
G Apoc2 apolipoprotein C2 susceptibility ISO RGD PMID:3944267, PMID:7590197 RGD:1601214, RGD:1601205 NCBI chr 1:80,589,023...80,593,991
Ensembl chr 1:80,589,023...80,594,136
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 chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Apoe apolipoprotein E susceptibility ISO
IMP
associated with Metabolic Syndrome X; DNA:missense mutations:cds:p.C112R, p.R158C (human)
ClinVar Annotator: match by term: Hypertriglyceridemia
ClinVar PMID:28492532 PMID:30311386, PMID:15713714, PMID:28808185, PMID:15118671 RGD:1601235, RGD:13703132, RGD:1331525 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Bche butyrylcholinesterase ISO associated with diabetes mellitus
CTD Direct Evidence: marker/mechanism
CTD PMID:23000450, PMID:8149699 RGD:1601335 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Cela2a chymotrypsin like elastase 2A ISO ClinVar Annotator: match by term: Hypertriglyceridemia ClinVar PMID:31358993 NCBI chr 5:160,374,031...160,383,782
Ensembl chr 5:160,374,031...160,383,782
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 chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: therapeutic CTD PMID:11893366 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 treatment ISO RGD PMID:18183944 RGD:10401058 NCBI chr 7:117,566,363...117,576,735
Ensembl chr 7:117,566,368...117,576,737
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 chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G Fabp2 fatty acid binding protein 2 ISO associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.A54T (human) RGD PMID:16919542, PMID:10999802 RGD:1626401, RGD:1300313 NCBI chr 2:227,080,912...227,083,654
Ensembl chr 2:227,080,924...227,083,501
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment IEP RGD PMID:22947172 RGD:10449176 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
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 chr 6:26,355,296...26,385,761
Ensembl chr 6:26,355,296...26,385,761
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO RGD PMID:11118009 RGD:1625423 NCBI chr 4:118,852,046...118,901,583
Ensembl chr 4:118,852,062...118,901,591
JBrowse link
G Gpr55 G protein-coupled receptor 55 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30148676 NCBI chr 9:92,961,431...93,011,157
Ensembl chr 9:92,962,738...92,963,697
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO RGD PMID:16804065 RGD:1601642 NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
JBrowse link
G Il6st interleukin 6 signal transducer IDA RGD PMID:8843746 RGD:1626687 NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Insig1 insulin induced gene 1 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chr 4:342,302...350,515
Ensembl chr 4:342,302...350,515
JBrowse link
G Insig2 insulin induced gene 2 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chr13:37,264,818...37,292,718
Ensembl chr13:37,266,312...37,287,458
JBrowse link
G Lcat lecithin cholesterol acyltransferase ISO RGD PMID:14668345 RGD:1581782 NCBI chr19:37,913,333...37,916,799
Ensembl chr19:37,913,336...37,916,813
JBrowse link
G Ldlr low density lipoprotein receptor IMP RGD PMID:28469073, PMID:27378433 RGD:12910100, RGD:12910104 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
G Ldlrem1 low density lipoprotein receptor; ZFN induced mutant 1 IMP RGD PMID:27378433 RGD:12910104
G Ldlrem1Sage low density lipoprotein receptor; ZFN induced mutant 1, Sage IMP RGD PMID:28469073 RGD:12910100
G Lep leptin IMP RGD PMID:22948215 RGD:12904911 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lepem1Sage leptin; zinc finger nuclease induced mutant1, Sage IMP RGD PMID:22948215 RGD:12904911
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 chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G Lipe lipase E, hormone sensitive type IDA RGD PMID:11016888 RGD:2313581 NCBI chr 1:82,248,031...82,266,727
Ensembl chr 1:82,248,046...82,266,727
JBrowse link
G Lipi lipase I susceptibility ISO DNA:polymorphism: :p.C55Y
ClinVar Annotator: match by term: Hypertriglyceridemia, susceptibility to
ClinVar PMID:12719377, PMID:12719377 RGD:1625450 NCBI chr11:13,960,246...13,999,869
Ensembl chr11:13,960,246...13,999,862
JBrowse link
G Lmf1 lipase maturation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17994020 NCBI chr10:14,945,185...15,031,855
Ensembl chr10:14,945,265...15,031,942
JBrowse link
G Lpl lipoprotein lipase susceptibility IDA
ISO
ClinVar Annotator: match by term: Hypertriglyceridemia
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar
CTD
PMID:8147947 PMID:20657596 PMID:25741868, PMID:11016888, PMID:17848837, PMID:16431216 RGD:2313581, RGD:2313305, RGD:1580533 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
JBrowse link
G Lta lymphotoxin alpha susceptibility
no_association
ISO associated with Diabetes Mellitus, Non-Insulin-Dependent
DNA:polymorphism
RGD PMID:7783649, PMID:9245742 RGD:1625036, RGD:1625035 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Mtor mechanistic target of rapamycin kinase IMP associated with Insulin Resistance RGD PMID:20566415 RGD:10040984 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 IEP associated with obesity RGD PMID:20729114 RGD:13801195 NCBI chr 5:56,567,109...56,576,676
Ensembl chr 5:56,567,109...56,576,676
JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:decreased expression:aorta RGD PMID:17824809 RGD:2292131 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nr4a1 nuclear receptor subfamily 4, group A, member 1 IMP compared to FHH RGD PMID:24722447 RGD:12910103 NCBI chr 7:142,899,358...142,920,216
Ensembl chr 7:142,905,758...142,920,216
JBrowse link
G Nr4a1m1Mcwi nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin IMP compared to FHH RGD PMID:24722447 RGD:12910103
G Pde5a phosphodiesterase 5A IMP RGD PMID:18787522 RGD:2314464 NCBI chr 2:226,899,604...227,044,916
Ensembl chr 2:226,900,619...227,041,576
JBrowse link
G Plin2 perilipin 2 ISO associated with Obesity RGD PMID:17484887 RGD:1625752 NCBI chr 5:104,984,413...105,010,863
Ensembl chr 5:104,984,414...105,010,857
JBrowse link
G Pltp phospholipid transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr 3:161,304,469...161,322,289
Ensembl chr 3:161,304,469...161,322,289
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
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 chr 5:15,005,028...15,060,508
Ensembl chr 5:15,043,955...15,060,508
JBrowse link
G Rps12 ribosomal protein S12 IEP associated with Metabolic Syndrome X;mRNA:increased expression:liver RGD PMID:25294893 RGD:11039460 NCBI chr 1:22,758,214...22,760,370
Ensembl chr 1:22,758,212...22,760,370
JBrowse link
G Serpinf2 serpin family F member 2 ISO protein:increased expression:plasma RGD PMID:9207984 RGD:1625533 NCBI chr10:62,264,247...62,272,353
Ensembl chr10:62,264,788...62,273,119
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr10:4,956,795...4,958,472
Ensembl chr10:4,957,326...4,958,461
JBrowse link
G Socs3 suppressor of cytokine signaling 3 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr10:106,973,863...106,976,969
Ensembl chr10:106,975,178...106,976,040
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 chr 1:124,983,391...125,101,759
Ensembl chr 1:124,983,452...125,099,573
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 chr 2:198,683,168...198,686,971
Ensembl chr 2:198,683,159...198,686,974
JBrowse link
G Vldlr very low density lipoprotein receptor IEP associated with Kidney Failure, Chronic;mRNA, protein:decreased expression:adipose tissue, skeletal muscle RGD PMID:9507207 RGD:1625577 NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
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 ClinVar Annotator: match by term: Hypertriglyceridemia, transient infantile
ClinVar Annotator: match by OMIM:614480
OMIM
ClinVar
PMID:24549054 PMID:25741868 NCBI chr 7:141,368,928...141,377,931
Ensembl chr 7:141,370,491...141,377,928
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
ClinVar Annotator: match by OMIM:210250
ClinVar
CTD
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:27291889 PMID:28203044 PMID:28492532 PMID:28521186 PMID:28771437 PMID:29353225 PMID:29886606 PMID:30985648 PMID:31060161 PMID:31064749, PMID:11452359 RGD:631968 NCBI chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Sitosterolemia
ClinVar Annotator: match by OMIM:210250
CTD Direct Evidence: marker/mechanism
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, PMID:11099417, PMID:11452359 RGD:1300331, RGD:631968 NCBI chr 6:7,961,413...7,980,708
Ensembl chr 6:7,961,413...7,980,708
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 chr 6:7,900,962...7,933,795
Ensembl chr 6:7,900,972...7,933,796
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 chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Sitosterolemia 1 OMIM
ClinVar
PMID:3706300 PMID:4360855 PMID:6110091 PMID:11099417 PMID:11264985 PMID:11452359 PMID:11893785 PMID:12124998 PMID:15054092 PMID:15816807 PMID:15996216 PMID:16029460 PMID:17632509 PMID:20854103 PMID:21039838 PMID:21274884 PMID:22898925 PMID:22981120 PMID:23241408 PMID:24657386 PMID:25073796 PMID:25110228 PMID:25741868 PMID:27291889 PMID:28492532 PMID:28521186 PMID:31064749 NCBI chr 6:7,961,413...7,980,708
Ensembl chr 6:7,961,413...7,980,708
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 chr 6:7,900,962...7,933,795
Ensembl chr 6:7,900,972...7,933,796
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: SITOSTEROLEMIA 2 ClinVar
OMIM
PMID:11099417 PMID:11138003 PMID:11907139 PMID:15375183 PMID:16029460 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 chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
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 chr 6:7,961,413...7,980,708
Ensembl chr 6:7,961,413...7,980,708
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 chr 6:7,900,962...7,933,795
Ensembl chr 6:7,900,972...7,933,796
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Nutritional and Metabolic Diseases 4739
      disease of metabolism 4739
        lipid metabolism disorder 908
          familial hyperlipidemia 268
            Hypercholesterolemia + 146
            Hyperlipoproteinemias + 34
            Hypertriglyceridemia + 97
            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 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          inherited metabolic disorder 2255
            lipid metabolism disorder 908
              Dyslipidemias 292
                familial hyperlipidemia 268
                  Hypercholesterolemia + 146
                  Hyperlipoproteinemias + 34
                  Hypertriglyceridemia + 97
                  familial chylomicronemia syndrome + 5
                  familial combined hyperlipidemia + 14
                  familial hypercholesterolemia + 15
                  glycogen storage disease IX + 4
                  hyperlipoproteinemia type V 1
paths to the root