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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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


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 ISO RGD PMID:17026988, PMID:23185768 RGD:1598533, RGD:21408557 NCBI chr11:60,761,669...60,869,753
Ensembl chr11:60,761,655...60,890,496
JBrowse link
G ABCB1 ATP binding cassette subfamily B member 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP::2677G>T/A(rs2032582)(human)
CTD
RGD
PMID:24502637, PMID:26922556 RGD:11574565 NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727
JBrowse link
G ABCG5 ATP binding cassette subfamily G member 5 susceptibility ISO sitosterolemia;DNA:missense mutation: :p.G583C RGD PMID:16026620 RGD:1598659 NCBI chr10:46,261,747...46,300,084
Ensembl chr10:46,271,772...46,299,773
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 chr10:46,300,142...46,319,592
Ensembl chr10:46,300,165...46,319,229
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing treatment ISO RGD PMID:24308182 RGD:8695929 NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
JBrowse link
G ADRB2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16027735 NCBI chr 4:60,048,502...60,050,447
Ensembl chr 4:59,941,517...60,050,298
JBrowse link
G ADRB3 adrenoceptor beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16027735 NCBI chr16:27,445,601...27,446,796
Ensembl chr16:27,445,601...27,447,521
JBrowse link
G ALB albumin ISO DNA:mutation RGD PMID:6468510 RGD:1601160 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G ANGPTL4 angiopoietin like 4 ISO RGD PMID:12401877, PMID:15837923 RGD:1578349, RGD:1625354 NCBI chr20:52,942,090...52,948,126
Ensembl chr20:52,942,259...52,947,475
JBrowse link
G APC APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:17546600 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
JBrowse link
G APOB apolipoprotein B treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:7627691, PMID:15716585, PMID:17658632 RGD:14401726, RGD:1578419 NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135
JBrowse link
G APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO RGD PMID:11116209 RGD:1626277 NCBI chr27:37,102,728...37,114,084
Ensembl chr27:37,103,016...37,114,556
JBrowse link
G APOC2 apolipoprotein C2 susceptibility ISO RGD PMID:1782747 RGD:1599175 NCBI chr 1:110,504,806...110,506,986
Ensembl chr 1:110,504,815...110,506,961
JBrowse link
G APOC3 apolipoprotein C3 treatment ISO RGD PMID:23542898 RGD:10054091 NCBI chr 5:16,744,423...16,746,992
Ensembl chr 5:16,744,423...16,746,992
JBrowse link
G APOE apolipoprotein E treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11947894, PMID:12871831, PMID:20530721, PMID:20937366, PMID:22762542, PMID:29459263 RGD:13703129, RGD:6903856 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
JBrowse link
G B9D2 B9 domain containing 2 treatment ISO associated with Chronic Kidney Failure;mRNA:increased expression:kidney
associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney cortex
RGD PMID:16834981, PMID:19001732 RGD:1601559, RGD:2306735 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G BCHE butyrylcholinesterase ISO protein:increased expression:serum RGD PMID:15219807 RGD:1601321 NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583
JBrowse link
G CCL2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:19525846 RGD:11528561 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:21485068 RGD:5490594 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
JBrowse link
G CRP C-reactive protein ISO protein:increased expression:serum: RGD PMID:24308182 RGD:8695929 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO RGD PMID:23002367 RGD:14700877 NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754
JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:plasma RGD PMID:8914465 RGD:11060253 NCBI chr 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607
JBrowse link
G F7 coagulation factor VII ISO protein:increased expression:plasma (rat) RGD PMID:11776312 RGD:2312300 NCBI chr22:60,572,459...60,582,743
Ensembl chr22:60,571,822...60,597,024
JBrowse link
G GCG glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:69995 NCBI chr36:7,544,637...7,554,171
Ensembl chr36:7,544,637...7,554,021
JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO mRNA:increased expression:gastrocnemius RGD PMID:16555472 RGD:1624365 NCBI chr10:68,067,817...68,125,001
Ensembl chr10:68,073,062...68,125,007
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 chr27:38,175,928...38,182,473
Ensembl chr27:38,175,931...38,181,763
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO mRNA,protein:increased expression:islet cells:diabetic but not prediabetic Zucker Diabetic Fatty (fa/fa) rats RGD PMID:14697232 RGD:1625074 NCBI chr 7:8,344,380...8,409,901
Ensembl chr 7:8,344,447...8,409,897
JBrowse link
G HSP70 heat shock protein 70 ISO associated with advanced age and Diabetes Mellitus, Type 2 (MeSH:D003924); DNA:SNP:CDS:B allele at position 1267 (=P2 allele) RGD PMID:15992611 RGD:1626649 NCBI chr12:1,285,282...1,287,670 JBrowse link
G IRS1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10591678 NCBI chr25:39,624,554...39,687,991 JBrowse link
G KL klotho ISO RGD PMID:10892340 RGD:1581732 NCBI chr25:7,154,359...7,201,744
Ensembl chr25:7,156,620...7,199,558
JBrowse link
G LCAT lecithin-cholesterol acyltransferase ISO RGD PMID:12935429 RGD:1581787 NCBI chr 5:81,556,047...81,559,313 JBrowse link
G LDLR low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11947894, PMID:25619500 NCBI chr20:50,115,175...50,152,443
Ensembl chr20:50,048,736...50,152,355
JBrowse link
G LEP leptin ISO mRNA:decreased expression:liver, adipose tissue (rat) RGD PMID:17671736 RGD:10053616 NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395
JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25222487 NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636
JBrowse link
G LIPC lipase C, hepatic type ISO CTD Direct Evidence: marker/mechanism
protein:reduced expression:plasma (rat)
CTD
RGD
PMID:1883393, PMID:12935429 RGD:1581787 NCBI chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037
JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20199424 NCBI chr 9:56,542,844...56,625,609
Ensembl chr 9:56,542,826...56,625,530
JBrowse link
G LPL lipoprotein lipase treatment ISO ClinVar Annotator: match by term: Hyperlipidemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1598907, PMID:9920508, PMID:17658632, PMID:29931882, PMID:30311386 RGD:13794383, RGD:1556571 NCBI chr25:37,078,306...37,102,729
Ensembl chr25:37,079,756...37,102,700
JBrowse link
G MIR125A microRNA mir-125a ISO RGD PMID:31988048 RGD:21403676 NCBI chr 1:105,400,273...105,400,332
Ensembl chr 1:105,400,270...105,400,337
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO associated with Diabetes Mellitus, Type 2 RGD PMID:16490430 RGD:1642030 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MTTP microsomal triglyceride transfer protein ISO RGD PMID:12191589 RGD:1625489 NCBI chr32:21,582,368...21,626,806
Ensembl chr32:21,570,801...21,628,624
JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Hyperlipidemia ClinVar PMID:18533079, PMID:20800588, PMID:23140321, PMID:24033266, PMID:24093860, PMID:25740977, PMID:25741868, PMID:27600940, PMID:30311386 NCBI chr18:42,271,159...42,288,782
Ensembl chr18:42,271,724...42,289,215
JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21285402 NCBI chr30:38,213,429...38,218,132
Ensembl chr30:38,213,250...38,218,130
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased phosphorylation:aorta
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11457755, PMID:17895290 RGD:2292129 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
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 chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: therapeutic CTD PMID:21640707 NCBI chr10:19,934,020...20,006,096
Ensembl chr10:19,934,165...20,006,146
JBrowse link
G PPARGC1B PPARG coactivator 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17932310 NCBI chr 4:59,167,041...59,278,977
Ensembl chr 4:59,174,604...59,279,464
JBrowse link
G RGN regucalcin ISO RGD PMID:15375596 RGD:9590273 NCBI chr  X:40,697,292...40,715,491
Ensembl chr  X:40,698,768...40,715,490
JBrowse link
G SDC1 syndecan 1 ISO RGD PMID:17403197 RGD:1643125 NCBI chr17:15,220,906...15,243,974
Ensembl chr17:15,222,094...15,243,890
JBrowse link
G SERPINC1 serpin family C member 1 ISO protein:increased expression:plasma RGD PMID:17283885 RGD:11035268 NCBI chr 7:25,322,668...25,333,022
Ensembl chr 7:25,316,129...25,332,987
JBrowse link
G SERPINF2 serpin family F member 2 ISO RGD PMID:2313941 RGD:1625536 NCBI chr 9:45,876,076...45,883,777
Ensembl chr 9:45,877,495...45,883,036
JBrowse link
G SHC1 SHC adaptor protein 1 ISO RGD PMID:15044008 RGD:1643177 NCBI chr 7:42,501,829...42,509,613
Ensembl chr 7:42,500,185...42,508,276
JBrowse link
G SLC27A1 solute carrier family 27 member 1 ISO protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle RGD PMID:15281014 RGD:1642794 NCBI chr20:45,309,094...45,341,101
Ensembl chr20:45,310,088...45,340,230
JBrowse link
G SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 ISO mRNA:decreased expression:thoracic aorta RGD PMID:24615205 RGD:9586357 NCBI chr27:4,624,962...4,640,229
Ensembl chr27:4,626,056...4,637,907
JBrowse link
G TFPI tissue factor pathway inhibitor ISO protein:increased expression:plasma: RGD PMID:8914465 RGD:11060253 NCBI chr36:29,457,131...29,546,455
Ensembl chr36:29,459,371...29,511,310
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO RGD PMID:18159007 RGD:2313110 NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933
JBrowse link
G VLDLR very low density lipoprotein receptor ISO RGD PMID:10985956 RGD:1625570 NCBI chr 1:91,242,010...91,277,030
Ensembl chr 1:91,241,509...91,272,495
JBrowse link
apolipoprotein C-III deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOC3 apolipoprotein C3 ISO OMIM NCBI chr 5:16,744,423...16,746,992
Ensembl chr 5:16,744,423...16,746,992
JBrowse link
autosomal recessive hypercholesterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 ISO OMIM NCBI chr 2:74,340,272...74,363,929
Ensembl chr 2:74,341,036...74,364,162
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 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
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 5:16,774,117...16,777,535
Ensembl chr 5:16,774,501...16,777,768
JBrowse link
familial apolipoprotein C-II deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOC2 apolipoprotein C2 ISO OMIM NCBI chr 1:110,504,806...110,506,986
Ensembl chr 1:110,504,815...110,506,961
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 chr 3:61,356,643...61,443,851
Ensembl chr 3:61,358,162...61,474,830
JBrowse link
G ALPL alkaline phosphatase, biomineralization associated ISO RGD PMID:16336518 RGD:1601173 NCBI chr 2:77,559,791...77,614,102
Ensembl chr 2:77,559,791...77,614,820
JBrowse link
G APOA2 apolipoprotein A2 ISO protein:increased expression:plasma: RGD PMID:12738753 RGD:1300287 NCBI chr38:21,263,641...21,265,887
Ensembl chr38:21,262,789...21,265,887
JBrowse link
G APOB apolipoprotein B ISO protein:increased expression:plasma
ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb
RGD
ClinVar
PMID:221546, PMID:1360085, PMID:1431583, PMID:1454832, PMID:1466657, PMID:1493642, PMID:1600334, PMID:1793440, PMID:1977310, PMID:2280177, PMID:2375782, PMID:2563166, PMID:3399894, PMID:3473077, PMID:3477815, PMID:3771801, PMID:7627691, PMID:7670940, PMID:7883971, PMID:8141833, PMID:8254047, PMID:8318509, PMID:8318993, PMID:8371062, PMID:8468533, PMID:8478017, PMID:8723684, PMID:8831935, PMID:8889592, PMID:8931699, PMID:8960785, PMID:9081691, PMID:9104431, PMID:9105560, PMID:9191540, PMID:9254062, PMID:9259199, PMID:9339363, PMID:9486979, PMID:9490296, PMID:9568749, PMID:9603795, PMID:9654205, PMID:9702952, PMID:9925662, PMID:10208479, PMID:10388479, PMID:10529757, PMID:10735632, PMID:10952765, PMID:11031227, PMID:11115503, PMID:11137107, PMID:11238294, PMID:11494965, PMID:11781700, PMID:11810272, PMID:11833852, PMID:11941481, PMID:12655413, PMID:14732481, PMID:15135245, PMID:15797858, PMID:15805152, PMID:16250003, PMID:16797745, PMID:17046772, PMID:17087781, PMID:17142622, PMID:17160438, PMID:17539906, PMID:17570373, PMID:17588943, PMID:17595251, PMID:17765246, PMID:17964958, PMID:17968143, PMID:18022922, PMID:18028451, PMID:18096825, PMID:18160469, PMID:18222178, PMID:18258526, PMID:18279815, PMID:18325181, PMID:18355452, PMID:18492086, PMID:18700895, PMID:18710658, PMID:19602640, PMID:20032471, PMID:20145306, PMID:20167924, PMID:20236128, PMID:20506408, PMID:20538126, PMID:20592474, PMID:20657596, PMID:20736250, PMID:20809525, PMID:20828696, PMID:21059979, PMID:21310417, PMID:21376320, PMID:21382890, PMID:21408211, PMID:21520333, PMID:21657943, PMID:21722902, PMID:21862702, PMID:21868016, PMID:21919778, PMID:22095935, PMID:22244043, PMID:22256951, PMID:22294733, PMID:22353362, PMID:22408029, PMID:22534770, PMID:22698793, PMID:22855658, PMID:22883975, PMID:22923420, PMID:23054246, PMID:23064986, PMID:23130880, PMID:23375686, PMID:23593297, PMID:23680767, PMID:23685560, PMID:23775634, PMID:23833242, PMID:23936638, PMID:24033266, PMID:24106285, PMID:24234650, PMID:24404629, PMID:24498611, PMID:24503134, PMID:24507774, PMID:24507775, PMID:24607922, PMID:24784157, PMID:24956927, PMID:24987033, PMID:25461735, PMID:25741868, PMID:26020417, PMID:26036859, PMID:26064709, PMID:26332594, PMID:26415676, PMID:26467025, PMID:26636822, PMID:26643808, PMID:26666465, PMID:26802169, PMID:27153395, PMID:27206935, PMID:27497240, PMID:27578127, PMID:27654142, PMID:27765764, PMID:27783906, PMID:27884173, PMID:27919364, PMID:27932355, PMID:28008009, PMID:28428224, PMID:28431867, PMID:28475941, PMID:28492532, PMID:28895539, PMID:28958330, PMID:28965616, PMID:29036232, PMID:29261184, PMID:29572815, PMID:29598884, PMID:30056620, PMID:30122538, PMID:30270084, PMID:30311386, PMID:30526649, PMID:30842500, PMID:31345425 RGD:1601200 NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135
JBrowse link
G APOC3 apolipoprotein C3 no_association ISO DNA:haplotype, snp:3' utr:g.3175G>C (human) RGD PMID:9062353, PMID:9812922, PMID:15863838 RGD:1601225, RGD:5685674, RGD:5685676 NCBI chr 5:16,744,423...16,746,992
Ensembl chr 5:16,744,423...16,746,992
JBrowse link
G APOE apolipoprotein E ISO DNA:missense mutations, haplotype:cds:p.C112R, p.R158C (human) RGD PMID:12915220, PMID:17127808 RGD:1578481, RGD:1601231 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
JBrowse link
G FASLG Fas ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:15063428 NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha ISO DNA:haplotype: :rs6031558,rs745975, rs3212198(human) RGD PMID:18340007 RGD:12904697 NCBI chr24:31,847,864...31,908,337
Ensembl chr24:31,847,961...31,905,916
JBrowse link
G LIPC lipase C, hepatic type ISO RGD PMID:16338252 RGD:1580512 NCBI chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037
JBrowse link
G LPL lipoprotein lipase ISO OMIM NCBI chr25:37,078,306...37,102,729
Ensembl chr25:37,079,756...37,102,700
JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:plasma: RGD PMID:18417194 RGD:13207412 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
JBrowse link
G THBD thrombomodulin ISO RGD PMID:15262191 RGD:1601645 NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649
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 chr38:21,412,943...21,419,072
Ensembl chr38:21,413,050...21,418,569
JBrowse link
G VWF von Willebrand factor ISO protein:increased expression:plasma: RGD PMID:18417194 RGD:13207412 NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142
JBrowse link
familial GPIHBP1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ISO OMIM NCBI chr13:37,005,499...37,007,214
Ensembl chr13:37,005,512...37,007,074
JBrowse link
familial hypercholesterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar PMID:19743957, PMID:20800056, PMID:24497850, PMID:25215231, PMID:25741868 NCBI chr11:60,761,669...60,869,753
Ensembl chr11:60,761,655...60,890,496
JBrowse link
G APOA2 apolipoprotein A2 ISO OMIM NCBI chr38:21,263,641...21,265,887
Ensembl chr38:21,262,789...21,265,887
JBrowse link
G APOB apolipoprotein B ISO DNA:deletion:promoter, exon:
ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: Familial hypercholesterolemias
RGD
ClinVar
PMID:221546, PMID:1360085, PMID:1424233, PMID:1454832, PMID:1466657, PMID:1493642, PMID:1600334, PMID:1793440, PMID:1933004, PMID:1977310, PMID:2280177, PMID:2375782, PMID:2563166, PMID:2574033, PMID:2725600, PMID:2843815, PMID:2903181, PMID:3477815, PMID:3627182, PMID:3771801, PMID:7627691, PMID:7670940, PMID:7883971, PMID:8141833, PMID:8254047, PMID:8318509, PMID:8318993, PMID:8371062, PMID:8468533, PMID:8478017, PMID:8723684, PMID:8831935, PMID:8889592, PMID:8931699, PMID:8960785, PMID:9081691, PMID:9104431, PMID:9105560, PMID:9191540, PMID:9254062, PMID:9259199, PMID:9339363, PMID:9486979, PMID:9490296, PMID:9568749, PMID:9603795, PMID:9654205, PMID:9702952, PMID:9925662, PMID:10208479, PMID:10388479, PMID:10529757, PMID:10735632, PMID:10952765, PMID:11031227, PMID:11115503, PMID:11137107, PMID:11238294, PMID:11494965, PMID:11781700, PMID:11810272, PMID:11833852, PMID:11941481, PMID:12031600, PMID:14732481, PMID:15135245, PMID:15308601, PMID:15797858, PMID:15805152, PMID:16250003, PMID:17046772, PMID:17087781, PMID:17142622, PMID:17160438, PMID:17539906, PMID:17570373, PMID:17588943, PMID:17595251, PMID:17765246, PMID:17964958, PMID:17968143, PMID:18022922, PMID:18028451, PMID:18096825, PMID:18160469, PMID:18222178, PMID:18258526, PMID:18279815, PMID:18325181, PMID:18355452, PMID:18492086, PMID:18700895, PMID:18710658, PMID:19602640, PMID:20032471, PMID:20145306, PMID:20167924, PMID:20236128, PMID:20506408, PMID:20538126, PMID:20592474, PMID:20657596, PMID:20736250, PMID:20809525, PMID:20828696, PMID:21059979, PMID:21310417, PMID:21376320, PMID:21382890, PMID:21408211, PMID:21520333, PMID:21600525, PMID:21600530, PMID:21657943, PMID:21722902, PMID:21862702, PMID:21868016, PMID:21919778, PMID:22095935, PMID:22244043, PMID:22256951, PMID:22294733, PMID:22353362, PMID:22408029, PMID:22534770, PMID:22698793, PMID:22883975, PMID:22923420, PMID:23054246, PMID:23064986, PMID:23130880, PMID:23375686, PMID:23593297, PMID:23680767, PMID:23685560, PMID:23775634, PMID:23833242, PMID:23936638, PMID:23956253, PMID:24033266, PMID:24106285, PMID:24234650, PMID:24404629, PMID:24498611, PMID:24503134, PMID:24507774, PMID:24507775, PMID:24585268, PMID:24607922, PMID:24784157, PMID:24956927, PMID:24987033, PMID:25461735, PMID:25741868, PMID:25741869, PMID:26020417, PMID:26036859, PMID:26064709, PMID:26332594, PMID:26415676, PMID:26467025, PMID:26636822, PMID:26643808, PMID:26666465, PMID:26802169, PMID:27153395, PMID:27206935, PMID:27497240, PMID:27578127, PMID:27654142, PMID:27765764, PMID:27783906, PMID:27884173, PMID:27919364, PMID:27932355, PMID:28008009, PMID:28428224, PMID:28431867, PMID:28475941, PMID:28492532, PMID:28895539, PMID:28958330, PMID:28965616, PMID:29036232, PMID:29261184, PMID:29572815, PMID:29598884, PMID:30056620, PMID:30076208, PMID:30122538, PMID:30270084, PMID:30311386, PMID:30526649, PMID:30842500, PMID:31345425 RGD:11527221 NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135
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 chr20:50,029,354...50,066,829
Ensembl chr20:50,029,369...50,066,829
JBrowse link
G EPHX2 epoxide hydrolase 2 ISO OMIM NCBI chr25:30,045,040...30,107,110
Ensembl chr25:30,045,291...30,107,110
JBrowse link
G GHR growth hormone receptor ISO OMIM NCBI chr 4:67,021,821...67,245,499
Ensembl chr 4:67,022,252...67,290,473
JBrowse link
G GK glycerol kinase ISO RGD PMID:10642898 RGD:13702898 NCBI chr  X:25,748,060...25,834,462 JBrowse link
G LDLR low density lipoprotein receptor ISO OMIM NCBI chr20:50,115,175...50,152,443
Ensembl chr20:50,048,736...50,152,355
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 2:74,340,272...74,363,929
Ensembl chr 2:74,341,036...74,364,162
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 5:54,197,211...54,210,724 JBrowse link
G PON2 paraoxonase 2 ISO DNA:missense mutation:cds:p.S311C (human) RGD PMID:16776623 RGD:1642625 NCBI chr14:20,652,905...20,680,945
Ensembl chr14:20,652,905...20,680,980
JBrowse link
G PPP1R17 protein phosphatase 1 regulatory subunit 17 ISO OMIM NCBI chr14:44,199,502...44,219,258
Ensembl chr14:44,174,748...44,218,200
JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:serum: RGD PMID:19004443 RGD:13207334 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
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 chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836
JBrowse link
G STAP1 signal transducing adaptor family member 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:26036859 NCBI chr13:58,091,457...58,148,902
Ensembl chr13:58,091,477...58,133,711
JBrowse link
Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOB apolipoprotein B ISO ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B
ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE
ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE
ClinVar PMID:221546, PMID:1360085, PMID:1431583, PMID:1454832, PMID:1466657, PMID:1493642, PMID:1600334, PMID:1793440, PMID:1977310, PMID:2280177, PMID:2375782, PMID:2563166, PMID:3399894, PMID:3473077, PMID:3477815, PMID:3771801, PMID:7627691, PMID:7670940, PMID:7883971, PMID:8141833, PMID:8254047, PMID:8318509, PMID:8318993, PMID:8371062, PMID:8468533, PMID:8478017, PMID:8723684, PMID:8831935, PMID:8889592, PMID:8931699, PMID:8960785, PMID:9081691, PMID:9104431, PMID:9105560, PMID:9191540, PMID:9254062, PMID:9259199, PMID:9339363, PMID:9486979, PMID:9490296, PMID:9568749, PMID:9603795, PMID:9654205, PMID:9702952, PMID:9925662, PMID:10208479, PMID:10388479, PMID:10529757, PMID:10735632, PMID:10952765, PMID:11031227, PMID:11115503, PMID:11137107, PMID:11238294, PMID:11494965, PMID:11781700, PMID:11810272, PMID:11833852, PMID:11941481, PMID:12655413, PMID:14732481, PMID:15135245, PMID:15797858, PMID:15805152, PMID:16250003, PMID:17046772, PMID:17087781, PMID:17142622, PMID:17160438, PMID:17539906, PMID:17570373, PMID:17588943, PMID:17595251, PMID:17765246, PMID:17964958, PMID:17968143, PMID:18022922, PMID:18028451, PMID:18096825, PMID:18160469, PMID:18222178, PMID:18258526, PMID:18279815, PMID:18325181, PMID:18355452, PMID:18492086, PMID:18700895, PMID:18710658, PMID:19602640, PMID:20032471, PMID:20145306, PMID:20167924, PMID:20236128, PMID:20506408, PMID:20538126, PMID:20592474, PMID:20657596, PMID:20736250, PMID:20809525, PMID:20828696, PMID:21059979, PMID:21310417, PMID:21376320, PMID:21382890, PMID:21408211, PMID:21520333, PMID:21657943, PMID:21722902, PMID:21862702, PMID:21868016, PMID:21919778, PMID:22095935, PMID:22244043, PMID:22256951, PMID:22294733, PMID:22353362, PMID:22408029, PMID:22534770, PMID:22698793, PMID:22855658, PMID:22883975, PMID:22923420, PMID:23054246, PMID:23064986, PMID:23130880, PMID:23375686, PMID:23593297, PMID:23680767, PMID:23685560, PMID:23775634, PMID:23833242, PMID:23936638, PMID:24033266, PMID:24106285, PMID:24234650, PMID:24404629, PMID:24498611, PMID:24503134, PMID:24507774, PMID:24507775, PMID:24607922, PMID:24784157, PMID:24956927, PMID:24987033, PMID:25461735, PMID:25741868, PMID:26020417, PMID:26036859, PMID:26064709, PMID:26332594, PMID:26415676, PMID:26467025, PMID:26636822, PMID:26643808, PMID:26666465, PMID:26802169, PMID:27153395, PMID:27206935, PMID:27497240, PMID:27578127, PMID:27654142, PMID:27765764, PMID:27783906, PMID:27884173, PMID:27919364, PMID:27932355, PMID:28008009, PMID:28428224, PMID:28431867, PMID:28475941, PMID:28492532, PMID:28895539, PMID:28958330, PMID:28965616, PMID:29036232, PMID:29261184, PMID:29572815, PMID:29598884, PMID:30056620, PMID:30122538, PMID:30270084, PMID:30311386, PMID:30526649, PMID:30842500, PMID:31345425 NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135
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 chr25:37,078,306...37,102,729
Ensembl chr25:37,079,756...37,102,700
JBrowse link
familial lipase maturation factor 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMF1 lipase maturation factor 1 ISO OMIM NCBI chr 6:39,682,229...39,768,311
Ensembl chr 6:39,696,442...39,762,709
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 5:16,774,117...16,777,535
Ensembl chr 5:16,774,501...16,777,768
JBrowse link
G APOC2 apolipoprotein C2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: C-II ANAPOLIPOPROTEINEMIA
ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE IB
CTD
ClinVar
PMID:213719, PMID:1349286, PMID:1628605, PMID:1782747, PMID:1971748, PMID:2477392, PMID:2592354, PMID:3192518, PMID:3225819, PMID:3263393, PMID:3467353, PMID:3680515, PMID:3944267, PMID:3944271, PMID:7815420, PMID:7923858, PMID:8323539, PMID:8490626, PMID:12783430, PMID:25741868, PMID:28492532 NCBI chr 1:110,504,806...110,506,986
Ensembl chr 1:110,504,815...110,506,961
JBrowse link
G LPL lipoprotein lipase ISO OMIM NCBI chr25:37,078,306...37,102,729
Ensembl chr25:37,079,756...37,102,700
JBrowse link
glycogen storage disease IXa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 ISO OMIM NCBI chr  X:14,911,511...14,989,923
Ensembl chr  X:14,896,206...14,989,283
JBrowse link
glycogen storage disease IXb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHKB phosphorylase kinase regulatory subunit beta ISO OMIM NCBI chr 2:67,260,532...67,476,596
Ensembl chr 2:67,254,542...67,476,532
JBrowse link
glycogen storage disease IXc term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHKG2 phosphorylase kinase catalytic subunit gamma 2 ISO OMIM NCBI chr 6:17,418,927...17,428,431
Ensembl chr 6:17,418,926...17,428,359
JBrowse link
glycogen storage disease IXd term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHKA1 phosphorylase kinase regulatory subunit alpha 1 ISO OMIM NCBI chr  X:56,579,538...56,758,293
Ensembl chr  X:56,581,435...56,757,905
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 chr25:37,078,306...37,102,729
Ensembl chr25:37,079,756...37,102,700
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha susceptibility ISO ClinVar Annotator: match by term: Hyperapobetalipoproteinemia, susceptibility to OMIM
ClinVar
PMID:10828087, PMID:12006394, PMID:15309680 NCBI chr10:19,934,020...20,006,096
Ensembl chr10:19,934,165...20,006,146
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 CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver, jejunum (rat)
CTD
RGD
PMID:22022523, PMID:24619822 RGD:19165129 NCBI chr11:60,761,669...60,869,753
Ensembl chr11:60,761,655...60,890,496
JBrowse link
G ABCB11 ATP binding cassette subfamily B member 11 ISO RGD PMID:21726512 RGD:14688050 NCBI chr36:13,742,895...13,835,312
Ensembl chr36:13,746,964...13,834,974
JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 ISO DNA:polymorphism: :p.M429V RGD PMID:15816807 RGD:1601094 NCBI chr10:46,300,142...46,319,592
Ensembl chr10:46,300,165...46,319,229
JBrowse link
G ACAT2 acetyl-CoA acetyltransferase 2 ISO RGD PMID:11100118 RGD:1556516 NCBI chr 1:49,011,665...49,029,368
Ensembl chr 1:49,011,706...49,029,327
JBrowse link
G ALPL alkaline phosphatase, biomineralization associated ISO RGD PMID:17403193 RGD:1601171 NCBI chr 2:77,559,791...77,614,102
Ensembl chr 2:77,559,791...77,614,820
JBrowse link
G APOA1 apolipoprotein A1 ISO DNA:polymorphisms: :-75G>A, 83C>T (human) RGD PMID:16309370 RGD:1601184 NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943
JBrowse link
G APOB apolipoprotein B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypercholesterolemia
CTD
ClinVar
RGD
PMID:1600334, PMID:16581047, PMID:24033266, PMID:25741868, PMID:26415676, PMID:26467025, PMID:27578127, PMID:28492532 RGD:1599167 NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135
JBrowse link
G APOC2 apolipoprotein C2 susceptibility ISO associated with Hypertriglyceridemia;DNA:missense mutation: :p.K38Q (human) RGD PMID:8490626 RGD:1601207 NCBI chr 1:110,504,806...110,506,986
Ensembl chr 1:110,504,815...110,506,961
JBrowse link
G APOC3 apolipoprotein C3 ISO RGD PMID:2879788 RGD:1578447 NCBI chr 5:16,744,423...16,746,992
Ensembl chr 5:16,744,423...16,746,992
JBrowse link
G APOE apolipoprotein E severity
susceptibility
ISO ClinVar Annotator: match by term: Hypercholesterolemia
CTD Direct Evidence: marker/mechanism
associated with Kidney Failure, Chronic; DNA:missense mutations, haplotype:cds:p.C130R, p.C176R (human)
DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human)
RGD
ClinVar
CTD
PMID:1411543, PMID:2987927, PMID:2992507, PMID:3243553, PMID:3922972, PMID:6300187, PMID:7263700, PMID:8346443, PMID:8618665, PMID:8644717, PMID:9343467, PMID:9649566, PMID:9932938, PMID:10213549, PMID:10799751, PMID:11397713, PMID:11835377, PMID:11940689, PMID:11940706, PMID:14741101, PMID:15048896, PMID:15184602, PMID:15326261, PMID:15557508, PMID:15668424, PMID:16103896, PMID:16143024, PMID:17217375, PMID:17289397, PMID:19605830, PMID:19667110, PMID:20031551, PMID:20031582, PMID:21043830, PMID:21357213, PMID:22022523, PMID:22228805, PMID:22381401, PMID:22992668, PMID:23060451, PMID:23296339, PMID:23571587, PMID:24033266, PMID:25741868, PMID:27260402, PMID:28808185, PMID:30311386 RGD:13703132, RGD:1601229, RGD:6903838, RGD:734968 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
JBrowse link
G ATM ATM serine/threonine kinase susceptibility ISO RGD PMID:15863839 RGD:1601249 NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207
JBrowse link
G CASP3 caspase 3 ISO RGD PMID:24484682 RGD:13782354 NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505
JBrowse link
G CASP9 caspase 9 ISO RGD PMID:24484682 RGD:13782354 NCBI chr 2:82,033,759...82,076,710
Ensembl chr 2:82,031,563...82,090,484
JBrowse link
G CD36 CD36 molecule ISO RGD PMID:10946357 RGD:11040931 NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639
JBrowse link
G CD40 CD40 molecule treatment ISO protein:increased expression:serum RGD PMID:21574786 RGD:7248754 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
JBrowse link
G CD40LG CD40 ligand treatment ISO associated with Diabetes Mellitus, Type 2
protein:increased expression:platelet (rat)
RGD PMID:18787388, PMID:21574786, PMID:26950185 RGD:11344960, RGD:7248428, RGD:7248754 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
JBrowse link
G CES1 carboxylesterase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12773168 NCBI chr 2:60,276,723...60,305,970
Ensembl chr 2:60,236,150...60,321,178
JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:30311386 NCBI chr15:18,430,601...18,492,564
Ensembl chr15:18,431,019...18,491,920
JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21852083 NCBI chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765
JBrowse link
G CPB2 carboxypeptidase B2 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:16123492 RGD:2313641 NCBI chr22:5,074,805...5,126,635
Ensembl chr22:5,074,816...5,126,170
JBrowse link
G CSF1 colony stimulating factor 1 ISO RGD PMID:9158105 RGD:1641957 NCBI chr 6:42,028,454...42,047,028
Ensembl chr 6:42,034,149...42,049,371
JBrowse link
G CTF1 cardiotrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21803294 NCBI chr 6:17,299,561...17,303,095
Ensembl chr 6:17,299,561...17,303,095
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO mRNA:decreased expression:liver RGD PMID:16472823 RGD:13782194 NCBI chr14:17,746,654...17,767,019
Ensembl chr14:17,746,656...17,766,658
JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 ISO mRNA:decreased expression:liver
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:8245718, PMID:16472823 RGD:13782194 NCBI chr29:9,285,315...9,295,895
Ensembl chr29:9,286,181...9,332,310
JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044
JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15486036 NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
JBrowse link
G ENG endoglin treatment ISO protein:increased expression, aortic root, aortic arch, endothelium (mouse) RGD PMID:17901886 RGD:7257552 NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064
JBrowse link
G FBXW4 F-box and WD repeat domain containing 4 ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:30311386 NCBI chr28:14,219,724...14,336,846
Ensembl chr28:14,219,893...14,301,924
JBrowse link
G FGF2 fibroblast growth factor 2 ISO associated with Carcinoma, Ductal, Breast RGD PMID:15491965 RGD:8655598 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:21966115 RGD:10449170 NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678
JBrowse link
G GSR glutathione-disulfide reductase treatment ISO RGD PMID:24120393, PMID:24770475 RGD:10401874, RGD:10401896 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752
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 5:14,767,306...14,775,205
Ensembl chr 5:14,767,666...14,775,082
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver
mRNA:decreased expression:liver (rat)
RGD
CTD
PMID:1611649, PMID:8593127, PMID:17250646, PMID:24619822, PMID:25168180 RGD:13782271, RGD:19165129, RGD:5508480, RGD:5508696 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294
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 chr24:31,847,864...31,908,337
Ensembl chr24:31,847,961...31,905,916
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:12921987 RGD:1624216 NCBI chr37:7,010,421...7,025,912 JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:serum RGD PMID:17330503 RGD:1626623 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 susceptibility ISO DNA:SNP:intron:rs3821831, homozygous C allele associated with higher total and HDL cholesterol
ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to
RGD
ClinVar
PMID:14661079 RGD:1627650
G LDLR low density lipoprotein receptor ISO ClinVar Annotator: match by term: Hypercholesterolaemia
ClinVar Annotator: match by term: Hypercholesterolemia
protein:decreased expression: liver
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1301940, PMID:1301956, PMID:1352322, PMID:1734910, PMID:1933004, PMID:2088165, PMID:3263645, PMID:3475071, PMID:4061492, PMID:4083361, PMID:7573037, PMID:7616128, PMID:7718019, PMID:7820934, PMID:7833932, PMID:8295321, PMID:8535447, PMID:9026534, PMID:9104431, PMID:9237502, PMID:9254862, PMID:9259195, PMID:9409298, PMID:9484998, PMID:9544745, PMID:9544746, PMID:9654205, PMID:9664576, PMID:9676383, PMID:9698020, PMID:9714107, PMID:9763532, PMID:9767373, PMID:9974426, PMID:10090473, PMID:10090484, PMID:10208479, PMID:10230472, PMID:10422803, PMID:10441197, PMID:10532689, PMID:10559517, PMID:10657581, PMID:10735632, PMID:10882754, PMID:11005141, PMID:11139254, PMID:11196104, PMID:11317361, PMID:11435110, PMID:11462246, PMID:11641914, PMID:11668627, PMID:11668640, PMID:11737238, PMID:11754108, PMID:11810272, PMID:11845603, PMID:11857755, PMID:12124988, PMID:12436241, PMID:12492446, PMID:12732381, PMID:14974088, PMID:15199436, PMID:15241806, PMID:15256764, PMID:15359125, PMID:15556094, PMID:15576851, PMID:15701167, PMID:15823276, PMID:15823280, PMID:15823288, PMID:15864114, PMID:15890894, PMID:16020744, PMID:16159606, PMID:16250003, PMID:16314194, PMID:16389549, PMID:16542394, PMID:16627557, PMID:16741953, PMID:17087781, PMID:17094996, PMID:17142622, PMID:17196209, PMID:17335829, PMID:17347910, PMID:17539906, PMID:17765246, PMID:18096825, PMID:18206115, PMID:18263977, PMID:18325082, PMID:18400033, PMID:18450471, PMID:18503695, PMID:18718593, PMID:19026292, PMID:19118540, PMID:19148831, PMID:19208450, PMID:19318025, PMID:19446849, PMID:19520913, PMID:19602640, PMID:19717150, PMID:19837725, PMID:19843101, PMID:20018285, PMID:20028367, PMID:20145306, PMID:20236128, PMID:20428891, PMID:20506408, PMID:20530721, PMID:20538126, PMID:20663204, PMID:21310417, PMID:21376320, PMID:21382890, PMID:21418584, PMID:21475731, PMID:21531209, PMID:21600525, PMID:21600530, PMID:21722902, PMID:21865347, PMID:21925044, PMID:21935675, PMID:21990180, PMID:22294733, PMID:22353362, PMID:22390909, PMID:22398274, PMID:22698793, PMID:22881376, PMID:22883975, PMID:22884763, PMID:22910581, PMID:22923420, PMID:23054246, PMID:23064986, PMID:23130880, PMID:23375686, PMID:23535506, PMID:23651751, PMID:23669246, PMID:23680767, PMID:23833242, PMID:23956253, PMID:24033266, PMID:24055113, PMID:24082139, PMID:24373485, PMID:24503134, PMID:24507775, PMID:24529145, PMID:24585268, PMID:24627126, PMID:24956927, PMID:25154303, PMID:25333069, PMID:25378237, PMID:25437892, PMID:25461735, PMID:25463123, PMID:25487149, PMID:25525159, PMID:25606447, PMID:25637381, PMID:25647241, PMID:25682026, PMID:25741862, PMID:25741868, PMID:25741872, PMID:25769531, PMID:25936317, PMID:26020417, PMID:26036859, PMID:26238499, PMID:26332594, PMID:26361156, PMID:26415676, PMID:26467025, PMID:26748104, PMID:26802169, PMID:26875785, PMID:26892515, PMID:26927322, PMID:27050191, PMID:27175606, PMID:27206935, PMID:27378433, PMID:27497240, PMID:27578128, PMID:27678436, PMID:27680772, PMID:27765764, PMID:27784735, PMID:27824480, PMID:27828139, PMID:27830735, PMID:27878139, PMID:28104544, PMID:28126585, PMID:28145427, PMID:28469073, PMID:28492532, PMID:28502495, PMID:28502510, PMID:28965616, PMID:29172679, PMID:29353225, PMID:29874871, PMID:30293936, PMID:30311386, PMID:30333156, PMID:30583242, PMID:30592178, PMID:31345425 RGD:12910100, RGD:12910104, RGD:1581819, RGD:21410185 NCBI chr20:50,115,175...50,152,443
Ensembl chr20:50,048,736...50,152,355
JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 ISO DNA:mutation:splice site; mRNA:in-frame deletion; protein:lacks 26 amino acids:beta strands 6 and 7 lost RGD PMID:15599766 RGD:1626107 NCBI chr 2:74,340,272...74,363,929
Ensembl chr 2:74,341,036...74,364,162
JBrowse link
G LEP leptin ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:22948215, PMID:25086370 RGD:12904911 NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395
JBrowse link
G LIPC lipase C, hepatic type ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:liver (mouse)
protein, mRNA:decreased expression:plasma, liver (rat)
associated with Diabetes Mellitus; protein:decreased expression:plasma (human)
RGD PMID:6340423, PMID:7830494, PMID:11279518 RGD:2308793, RGD:2308841, RGD:2308850 NCBI chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037
JBrowse link
G LOC479668 haptoglobin-like ISO protein:increased expression:plasma RGD PMID:16944942 RGD:1626342 NCBI chr 5:77,795,183...77,800,034 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 chr25:37,078,306...37,102,729
Ensembl chr25:37,079,756...37,102,700
JBrowse link
G LSS lanosterol synthase ISO mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271 NCBI chr31:39,479,255...39,502,439
Ensembl chr31:39,480,581...39,503,042
JBrowse link
G MIR223 microRNA mir-223 ISO RGD PMID:25246565 RGD:21408582 NCBI chr  X:50,838,131...50,838,233
Ensembl chr  X:50,838,131...50,838,233
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271 NCBI chr 5:64,683,146...64,691,576
Ensembl chr 5:64,682,276...64,691,073
JBrowse link
G MYLK myosin light chain kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21052790 NCBI chr33:26,663,991...26,867,370
Ensembl chr33:26,664,800...26,843,181
JBrowse link
G NCF1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14871415 NCBI chr 6:5,702,222...5,719,515
Ensembl chr 6:5,605,694...5,719,458
JBrowse link
G NOX1 NADPH oxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20832062 NCBI chr  X:74,784,627...74,811,796
Ensembl chr  X:74,785,168...74,811,698
JBrowse link
G NPC1L1 NPC1 like intracellular cholesterol transporter 1 ISO RGD PMID:15671032 RGD:1642184
G NPY neuropeptide Y ISO associated with Obesity;DNA:missense mutation:cds:p.L7P (human) RGD PMID:11689216 RGD:1580177 NCBI chr14:37,824,579...37,831,289
Ensembl chr14:37,823,861...37,831,443
JBrowse link
G NR4A3 nuclear receptor subfamily 4 group A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16005304 NCBI chr11:56,806,506...56,846,997
Ensembl chr11:56,812,804...56,847,689
JBrowse link
G PAPPA pappalysin 1 ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:14661010, PMID:15531533 RGD:1642328, RGD:1642329 NCBI chr11:69,979,295...70,220,256
Ensembl chr11:69,982,268...70,219,550
JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12730697 NCBI chr 5:54,197,211...54,210,724 JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16229851 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
JBrowse link
G PPP1R17 protein phosphatase 1 regulatory subunit 17 ISO ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to ClinVar PMID:12955585 NCBI chr14:44,199,502...44,219,258
Ensembl chr14:44,174,748...44,218,200
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:28492532, PMID:30311386 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
JBrowse link
G SCAP SREBF chaperone ISO protein:increased expression:liver RGD PMID:16741953 RGD:1581819 NCBI chr20:41,418,507...41,485,681
Ensembl chr20:41,418,536...41,487,024
JBrowse link
G SCARB1 scavenger receptor class B member 1 ISO RGD PMID:15967843 RGD:1580004 NCBI chr26:5,035,797...5,122,383
Ensembl chr26:5,049,407...5,121,468
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 chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189
JBrowse link
G SELE selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chr 7:28,888,503...28,898,787
Ensembl chr 7:28,888,197...28,898,786
JBrowse link
G SERPINF2 serpin family F member 2 ISO protein:decreased expression:serum RGD PMID:1384011 RGD:1625534 NCBI chr 9:45,876,076...45,883,777
Ensembl chr 9:45,877,495...45,883,036
JBrowse link
G SOAT2 sterol O-acyltransferase 2 susceptibility ISO RGD PMID:11100118 RGD:1556516 NCBI chr27:2,053,063...2,062,773
Ensembl chr27:2,053,067...2,062,329
JBrowse link
G SQLE squalene epoxidase ISO mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271 NCBI chr13:22,994,010...23,018,134
Ensembl chr13:22,993,862...23,017,978
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 ISO protein:altered localization:liver RGD PMID:16741953 RGD:1581819 NCBI chr 5:41,663,809...41,686,764
Ensembl chr 5:41,663,773...41,686,776
JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO DNA:mutations:exon:p.V623M, p.R645Q (human)
DNA:polymorphism: :1784G>C (human)
protein:altered localization:liver
RGD PMID:11950857, PMID:15547298, PMID:16741953, PMID:18095312 RGD:1581415, RGD:1581819, RGD:1625197, RGD:2308813 NCBI chr10:23,451,923...23,532,765
Ensembl chr10:23,452,561...23,518,689
Ensembl chr10:23,452,561...23,518,689
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933
JBrowse link
G VEGFA vascular endothelial growth factor A ISO associated with Carcinoma, Ductal, Breast RGD PMID:15491965 RGD:8655598 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
G VLDLR very low density lipoprotein receptor ISO RGD PMID:8636110 RGD:1625573 NCBI chr 1:91,242,010...91,277,030
Ensembl chr 1:91,241,509...91,272,495
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 chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135
JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 ISO OMIM NCBI chr 5:54,197,211...54,210,724 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 chr38:21,412,943...21,419,072
Ensembl chr38:21,413,050...21,418,569
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 chr11:60,761,669...60,869,753
Ensembl chr11:60,761,655...60,890,496
JBrowse link
G ADRB2 adrenoceptor beta 2 ISO DNA:polymorphism: :p.Q27E RGD PMID:17020471 RGD:1601121 NCBI chr 4:60,048,502...60,050,447
Ensembl chr 4:59,941,517...60,050,298
JBrowse link
G APOA1 apolipoprotein A1 ISO DNA:polymorphism:promoter:-75G>A (human) RGD PMID:9699897 RGD:1601186 NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943
JBrowse link
G APOA2 apolipoprotein A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12522687 NCBI chr38:21,263,641...21,265,887
Ensembl chr38:21,262,789...21,265,887
JBrowse link
G APOA4 apolipoprotein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 5:16,751,588...16,754,215
Ensembl chr 5:16,751,799...16,754,837
JBrowse link
G APOB apolipoprotein B ISO OMIM NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135
JBrowse link
G APOC3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 5:16,744,423...16,746,992
Ensembl chr 5:16,744,423...16,746,992
JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294
JBrowse link
G LDLR low density lipoprotein receptor ISO ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia
ClinVar Annotator: match by term: Hyperlipoproteinemia Type II
ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA
CTD Direct Evidence: marker/mechanism
DNA:deletion: :p.G197del (human)
RGD
ClinVar
CTD
PMID:1301940, PMID:1301956, PMID:1319734, PMID:1352322, PMID:1453433, PMID:1464748, PMID:1493640, PMID:1734910, PMID:1830890, PMID:1867200, PMID:1884514, PMID:1933004, PMID:1952806, PMID:1959928, PMID:1978682, PMID:1999337, PMID:2029498, PMID:2088165, PMID:2318961, PMID:2352257, PMID:2569482, PMID:2600087, PMID:2698793, PMID:2726768, PMID:2760205, PMID:2901412, PMID:2920733, PMID:3020025, PMID:3025214, PMID:3198114, PMID:3202825, PMID:3263645, PMID:3425583, PMID:3472763, PMID:3815525, PMID:4061492, PMID:7489239, PMID:7548065, PMID:7573037, PMID:7583548, PMID:7603991, PMID:7616128, PMID:7635461, PMID:7649546, PMID:7649549, PMID:7718019, PMID:7718024, PMID:7749829, PMID:7894220, PMID:7903864, PMID:7947594, PMID:7979249, PMID:8054972, PMID:8093663, PMID:8096412, PMID:8098448, PMID:8347689, PMID:8399083, PMID:8535447, PMID:8645371, PMID:8828982, PMID:8829662, PMID:8850176, PMID:8882879, PMID:8911609, PMID:9016531, PMID:9026534, PMID:9048913, PMID:9104431, PMID:9157944, PMID:9254862, PMID:9259195, PMID:9272705, PMID:9409298, PMID:9430375, PMID:9452078, PMID:9452095, PMID:9484998, PMID:9654205, PMID:9664576, PMID:9676383, PMID:9678702, PMID:9698020, PMID:9712531, PMID:9714107, PMID:9727746, PMID:9763532, PMID:9767373, PMID:9974426, PMID:10090473, PMID:10090484, PMID:10208479, PMID:10407508, PMID:10422803, PMID:10422804, PMID:10441197, PMID:10532689, PMID:10559517, PMID:10634824, PMID:10657581, PMID:10704205, PMID:10735632, PMID:10782930, PMID:10790219, PMID:10807540, PMID:10882754, PMID:10952765, PMID:10978268, PMID:11031227, PMID:11040093, PMID:11052664, PMID:11139254, PMID:11196104, PMID:11313767, PMID:11317361, PMID:11317362, PMID:11373616, PMID:11381031, PMID:11462246, PMID:11491306, PMID:11585102, PMID:11600564, PMID:11641914, PMID:11668627, PMID:11668640, PMID:11754108, PMID:11810272, PMID:11845603, PMID:11851376, PMID:11857755, PMID:11933210, PMID:12009418, PMID:12113284, PMID:12124988, PMID:12406975, PMID:12417285, PMID:12436241, PMID:12477733, PMID:12522687, PMID:12553167, PMID:12673584, PMID:12730724, PMID:12732381, PMID:12837857, PMID:14209286, PMID:14508510, PMID:14512370, PMID:14749324, PMID:14974088, PMID:14993243, PMID:15100232, PMID:15199436, PMID:15200491, PMID:15241806, PMID:15256764, PMID:15359125, PMID:15523646, PMID:15528480, PMID:15556092, PMID:15556093, PMID:15556094, PMID:15701167, PMID:15823276, PMID:15823280, PMID:15864114, PMID:15936313, PMID:16020744, PMID:16159606, PMID:16183066, PMID:16205024, PMID:16250003, PMID:16314194, PMID:16343504, PMID:16389549, PMID:16542394, PMID:16627557, PMID:16796766, PMID:17087781, PMID:17094996, PMID:17142622, PMID:17196209, PMID:17335829, PMID:17347910, PMID:17406740, PMID:17426749, PMID:17539906, PMID:17765246, PMID:18096825, PMID:18206115, PMID:18239150, PMID:18263977, PMID:18279815, PMID:18325082, PMID:18503695, PMID:18677035, PMID:18700895, PMID:18718593, PMID:18757057, PMID:18847225, PMID:18929537, PMID:19007590, PMID:19013141, PMID:19026292, PMID:19118540, PMID:19148831, PMID:19208450, PMID:19318025, PMID:19319977, PMID:19361455, PMID:19411563, PMID:19446849, PMID:19467224, PMID:19538517, PMID:19602640, PMID:19717150, PMID:19843101, PMID:20045108, PMID:20145306, PMID:20236128, PMID:20506408, PMID:20538126, PMID:20663204, PMID:20809525, PMID:20828696, PMID:21145767, PMID:21276076, PMID:21310417, PMID:21376320, PMID:21382890, PMID:21418584, PMID:21475731, PMID:21511053, PMID:21531209, PMID:21600525, PMID:21600530, PMID:21642693, PMID:21722902, PMID:21865347, PMID:21925044, PMID:21935675, PMID:21990180, PMID:22095935, PMID:22294733, PMID:22353362, PMID:22390909, PMID:22398274, PMID:22487947, PMID:22698793, PMID:22859806, PMID:22881376, PMID:22883975, PMID:23054246, PMID:23064986, PMID:23155708, PMID:23375686, PMID:23510778, PMID:23651751, PMID:23669246, PMID:23680767, PMID:23833242, PMID:23956253, PMID:24014831, PMID:24033266, PMID:24075752, PMID:24281370, PMID:24507775, PMID:24585268, PMID:24627126, PMID:24956927, PMID:25154303, PMID:25282520, PMID:25378237, PMID:25412742, PMID:25461735, PMID:25463123, PMID:25487149, PMID:25525159, PMID:25545329, PMID:25637381, PMID:25647241, PMID:25741868, PMID:25741871, PMID:25769531, PMID:25911074, PMID:25921077, PMID:25962062, PMID:26020417, PMID:26036859, PMID:26046366, PMID:26238499, PMID:26343872, PMID:26433113, PMID:26467025, PMID:26633542, PMID:26748104, PMID:26892515, PMID:26927322, PMID:27206935, PMID:27247956, PMID:27542166, PMID:27578127, PMID:27678436, PMID:27680772, PMID:27765764, PMID:27783906, PMID:27784735, PMID:27816806, PMID:27821657, PMID:27824480, PMID:28008010, PMID:28028493, PMID:28104544, PMID:28126585, PMID:28145427, PMID:28161202, PMID:28169869, PMID:28235710, PMID:28349240, PMID:28379029, PMID:28391882, PMID:28458923, PMID:28492532, PMID:28502510, PMID:28873201, PMID:28895539, PMID:28964736, PMID:28965616, PMID:29233637, PMID:29284604, PMID:29353225, PMID:29874871, PMID:30270055, PMID:30293936, PMID:30586733, PMID:30592178, PMID:31345425, PMID:220236128 RGD:1581824, RGD:5490248 NCBI chr20:50,115,175...50,152,443
Ensembl chr20:50,048,736...50,152,355
JBrowse link
G LIPC lipase C, hepatic type ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037
JBrowse link
G LPL lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr25:37,078,306...37,102,729
Ensembl chr25:37,079,756...37,102,700
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:16280123 RGD:1642031 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MTTP microsomal triglyceride transfer protein ISO RGD PMID:17215532 RGD:1625482 NCBI chr32:21,582,368...21,626,806
Ensembl chr32:21,570,801...21,628,624
JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 severity ISO DNA:missense mutation:cds:p.D374Y (human)
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia
DNA:missense mutations:cds:p.S127R, p.F216L (human)
RGD
ClinVar
PMID:12730697, PMID:14727179, PMID:15654334, PMID:15772090, PMID:16424354, PMID:16554528, PMID:16571601, PMID:17316651, PMID:18354102, PMID:19351729, PMID:19797716, PMID:19917273, PMID:20006333, PMID:20031607, PMID:20579540, PMID:21146822, PMID:23743349, PMID:24033266, PMID:24507774, PMID:24859021, PMID:25014035, PMID:25278291, PMID:25412415, PMID:25741868, PMID:25962062, PMID:26049403, PMID:26374825, PMID:26467025, PMID:26632531, PMID:27135400, PMID:27218270, PMID:27280970, PMID:27765764, PMID:28179607, PMID:28492532, PMID:28768753, PMID:28965616, PMID:29083407, PMID:29261184, PMID:29997226 RGD:1580998, RGD:1581001, RGD:1581002 NCBI chr 5:54,197,211...54,210,724 JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523, PMID:16238680 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
JBrowse link
G PON2 paraoxonase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr14:20,652,905...20,680,945
Ensembl chr14:20,652,905...20,680,980
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 5:16,774,117...16,777,535
Ensembl chr 5:16,774,501...16,777,768
JBrowse link
G APOC3 apolipoprotein C3 ISO RGD PMID:2879788 RGD:1578447 NCBI chr 5:16,744,423...16,746,992
Ensembl chr 5:16,744,423...16,746,992
JBrowse link
G APOE apolipoprotein E ISO OMIM NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
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 5:16,774,117...16,777,535
Ensembl chr 5:16,774,501...16,777,768
JBrowse link
G CREB3L3 cAMP responsive element binding protein 3 like 3 ISO ClinVar Annotator: match by term: Familial hypertriglyceridemia ClinVar PMID:21666694 NCBI chr20:55,426,406...55,439,070
Ensembl chr20:55,426,813...55,436,882
JBrowse link
hyperlipoproteinemia type V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA5 apolipoprotein A5 ISO OMIM NCBI chr 5:16,774,117...16,777,535
Ensembl chr 5:16,774,501...16,777,768
JBrowse link
Hyperlipoproteinemias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA4 apolipoprotein A4 ISO protein:increased expression:blood plasma (human) RGD PMID:226830 RGD:5685673 NCBI chr 5:16,751,588...16,754,215
Ensembl chr 5:16,751,799...16,754,837
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 5:16,774,117...16,777,535
Ensembl chr 5:16,774,501...16,777,768
JBrowse link
G APOC2 apolipoprotein C2 susceptibility ISO DNA:missense mutation: :p.L72P (human)
protein:increased expression:serum
RGD PMID:1468157, PMID:16153625 RGD:1601204, RGD:1601208 NCBI chr 1:110,504,806...110,506,986
Ensembl chr 1:110,504,815...110,506,961
JBrowse link
G APOC3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2022742 NCBI chr 5:16,744,423...16,746,992
Ensembl chr 5:16,744,423...16,746,992
JBrowse link
G APOH apolipoprotein H ISO RGD PMID:6613192 RGD:2313992 NCBI chr 9:14,082,648...14,095,186
Ensembl chr 9:14,082,541...14,095,185
JBrowse link
G LIPC lipase C, hepatic type ISO associated with Obesity and Diabetes; DNA:transition:promoter:-514C>T (human)
associated with Nephrosis; protein:decreased expression:plasma (rat)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:6480830, PMID:11427226, PMID:15941898, PMID:18160998 RGD:2308798, RGD:2308829, RGD:2308834 NCBI chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037
JBrowse link
G PON1 paraoxonase 1 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:11015468, PMID:15324535 RGD:731237, RGD:8547684 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:10828087 NCBI chr10:19,934,020...20,006,096
Ensembl chr10:19,934,165...20,006,146
JBrowse link
G SERPINF2 serpin family F member 2 ISO RGD PMID:6121140 RGD:1625537 NCBI chr 9:45,876,076...45,883,777
Ensembl chr 9:45,877,495...45,883,036
JBrowse link
Hypertriglyceridemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP1 acid phosphatase 1 ISO associated with Obesity RGD PMID:12409270 RGD:1625288 NCBI chr17:243,757...251,151
Ensembl chr17:243,713...250,758
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO associated with HIV Infections RGD PMID:21595566 RGD:8694463 NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
JBrowse link
G AHSG alpha 2-HS glycoprotein ISO protein:increased expression:serum RGD PMID:19228823 RGD:2313809 NCBI chr34:19,221,034...19,228,866
Ensembl chr34:19,221,107...19,228,716
JBrowse link
G ANGPTL3 angiopoietin like 3 ISO RGD PMID:12672813 RGD:1578347 NCBI chr 5:47,524,390...47,532,931
Ensembl chr 5:47,525,365...47,532,899
JBrowse link
G ANGPTL4 angiopoietin like 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28842503 NCBI chr20:52,942,090...52,948,126
Ensembl chr20:52,942,259...52,947,475
JBrowse link
G APOA1 apolipoprotein A1 no_association ISO DNA:polymorphism:promoter:-75G>A RGD PMID:7910586 RGD:1601187 NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943
JBrowse link
G APOA2 apolipoprotein A2 ISO DNA:polymorphism RGD PMID:9489233 RGD:1601190 NCBI chr38:21,263,641...21,265,887
Ensembl chr38:21,262,789...21,265,887
JBrowse link
G APOA4 apolipoprotein A4 ISO human gene in mouse model RGD PMID:2167514 RGD:5685672 NCBI chr 5:16,751,588...16,754,215
Ensembl chr 5:16,751,799...16,754,837
JBrowse link
G APOA5 apolipoprotein A5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertriglyceridemia, susceptibility to
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C (human)
CTD
ClinVar
RGD
PMID:11588264, PMID:12417524, PMID:12417525, PMID:12818421, PMID:12915450, PMID:16238453, PMID:18468520, PMID:20657596, PMID:23151256, PMID:23307945, PMID:24387992, PMID:25741868 RGD:1578414, RGD:2313317, RGD:2313328 NCBI chr 5:16,774,117...16,777,535
Ensembl chr 5:16,774,501...16,777,768
JBrowse link
G APOB apolipoprotein B ISO protein:increased expression:plasma (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:8121310, PMID:20657596 RGD:11353966 NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135
JBrowse link
G APOC1 apolipoprotein C1 ISO protein:increased expression:plasma RGD PMID:3757210 RGD:2313953 NCBI chr 1:110,520,177...110,522,563
Ensembl chr 1:110,520,198...110,631,412
JBrowse link
G APOC2 apolipoprotein C2 susceptibility ISO RGD PMID:3944267, PMID:7590197 RGD:1601205, RGD:1601214 NCBI chr 1:110,504,806...110,506,986
Ensembl chr 1:110,504,815...110,506,961
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 5:16,744,423...16,746,992
Ensembl chr 5:16,744,423...16,746,992
JBrowse link
G APOE apolipoprotein E susceptibility ISO associated with Metabolic Syndrome X; DNA:missense mutations:cds:p.C112R, p.R158C (human)
ClinVar Annotator: match by term: Hypertriglyceridemia
RGD
ClinVar
PMID:2987927, PMID:3922972, PMID:7263700, PMID:8346443, PMID:8618665, PMID:8644717, PMID:9343467, PMID:9932938, PMID:10213549, PMID:10799751, PMID:11835377, PMID:11940689, PMID:11940706, PMID:14741101, PMID:15048896, PMID:15184602, PMID:15326261, PMID:15557508, PMID:15668424, PMID:15713714, PMID:19605830, PMID:22381401, PMID:23060451, PMID:23296339, PMID:23571587, PMID:24033266, PMID:25741868, PMID:27260402, PMID:28492532, PMID:28808185, PMID:30311386 RGD:13703132, RGD:1601235 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
JBrowse link
G BCHE butyrylcholinesterase ISO associated with diabetes mellitus
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:8149699, PMID:23000450 RGD:1601335 NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583
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 chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977
JBrowse link
G CRP C-reactive protein ISO CTD Direct Evidence: therapeutic CTD PMID:11893366 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 treatment ISO RGD PMID:18183944 RGD:10401058 NCBI chr13:37,745,395...37,761,337
Ensembl chr13:37,741,706...37,756,916
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 chr22:60,572,459...60,582,743
Ensembl chr22:60,571,822...60,597,024
JBrowse link
G FABP2 fatty acid binding protein 2 ISO associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.A54T (human)
DNA:polymorphism:CDS:amino acid A54T, in a normal glucose tolerant population from urban south India
RGD PMID:10999802, PMID:16919542 RGD:1300313, RGD:1626401 NCBI chr32:38,244,065...38,248,093 JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:22947172 RGD:10449176 NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678
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 chr17:21,431,113...21,460,143
Ensembl chr17:21,434,200...21,459,935
JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO RGD PMID:11118009 RGD:1625423 NCBI chr10:68,067,817...68,125,001
Ensembl chr10:68,073,062...68,125,007
JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha ISO Finnish and Mexican populations; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1A (1-1-2) RGD PMID:16804065 RGD:1601642 NCBI chr24:31,847,864...31,908,337
Ensembl chr24:31,847,961...31,905,916
JBrowse link
G IL6ST interleukin 6 signal transducer ISO RGD PMID:8843746 RGD:1626687 NCBI chr 2:43,214,050...43,273,014
Ensembl chr 2:43,214,050...43,248,124
JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122
JBrowse link
G INSIG1 insulin induced gene 1 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chr16:18,260,456...18,271,855
Ensembl chr16:18,259,935...18,271,378
JBrowse link
G INSIG2 insulin induced gene 2 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chr19:31,796,984...31,811,556
Ensembl chr19:31,791,710...31,811,386
JBrowse link
G LCAT lecithin-cholesterol acyltransferase ISO RGD PMID:14668345 RGD:1581782 NCBI chr 5:81,556,047...81,559,313 JBrowse link
G LDLR low density lipoprotein receptor ISO RGD PMID:27378433, PMID:28469073 RGD:12910100, RGD:12910104 NCBI chr20:50,115,175...50,152,443
Ensembl chr20:50,048,736...50,152,355
JBrowse link
G LEP leptin ISO RGD PMID:22948215 RGD:12904911 NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395
JBrowse link
G LIPC lipase C, hepatic type ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human) RGD PMID:187516 RGD:2308846 NCBI chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037
JBrowse link
G LIPE lipase E, hormone sensitive type ISO RGD PMID:11016888 RGD:2313581 NCBI chr 1:111,987,862...112,006,492
Ensembl chr 1:111,988,029...112,006,461
JBrowse link
G LIPI lipase I susceptibility ISO DNA:polymorphism: :p.C55Y
ClinVar Annotator: match by term: Hypertriglyceridemia, susceptibility to
RGD
ClinVar
PMID:12719377 RGD:1625450 NCBI chr31:11,139,134...11,196,383
Ensembl chr31:11,139,110...11,230,181
JBrowse link
G LMF1 lipase maturation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17994020 NCBI chr 6:39,682,229...39,768,311
Ensembl chr 6:39,696,442...39,762,709
JBrowse link
G LPL lipoprotein lipase susceptibility ISO ClinVar Annotator: match by term: Hypertriglyceridemia
CTD Direct Evidence: marker/mechanism|therapeutic
RGD
ClinVar
CTD
PMID:8147947, PMID:11016888, PMID:16431216, PMID:17848837, PMID:20657596, PMID:25741868 RGD:1580533, RGD:2313305, RGD:2313581 NCBI chr25:37,078,306...37,102,729
Ensembl chr25:37,079,756...37,102,700
JBrowse link
G LTA lymphotoxin alpha no_association
susceptibility
ISO DNA:polymorphism
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD PMID:7783649, PMID:9245742 RGD:1625035, RGD:1625036 NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO associated with Insulin Resistance RGD PMID:20566415 RGD:10040984 NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114
JBrowse link
G NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 ISO associated with obesity RGD PMID:20729114 RGD:13801195 NCBI chr11:49,821,998...49,833,624
Ensembl chr22:3,526,115...3,526,501
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:decreased expression:aorta RGD PMID:17824809 RGD:2292131 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G PDE5A phosphodiesterase 5A ISO RGD PMID:18787522 RGD:2314464 NCBI chr32:38,272,573...38,407,517
Ensembl chr32:38,244,338...38,407,522
JBrowse link
G PLIN2 perilipin 2 ISO associated with Obesity RGD PMID:17484887 RGD:1625752 NCBI chr11:38,940,063...38,959,126
Ensembl chr11:38,940,065...38,959,070
JBrowse link
G PLTP phospholipid transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr24:33,189,098...33,199,935
Ensembl chr24:33,189,099...33,199,854
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chr10:19,934,020...20,006,096
Ensembl chr10:19,934,165...20,006,146
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 chr29:6,079,519...6,136,009
Ensembl chr29:6,079,377...6,136,009
JBrowse link
G RPS12 ribosomal protein S12 ISO associated with Metabolic Syndrome X;mRNA:increased expression:liver RGD PMID:25294893 RGD:11039460 NCBI chr 1:25,836,409...25,839,148
Ensembl chr 1:25,836,500...25,839,146
JBrowse link
G SERPINF2 serpin family F member 2 ISO protein:increased expression:plasma RGD PMID:9207984 RGD:1625533 NCBI chr 9:45,876,076...45,883,777
Ensembl chr 9:45,877,495...45,883,036
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr 6:31,511,003...31,511,995
Ensembl chr 6:31,509,268...31,511,557
JBrowse link
G SOCS3 suppressor of cytokine signaling 3 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr 9:2,859,267...2,859,944 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 3:37,860,730...37,949,108
Ensembl chr 3:37,817,339...37,949,108
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 chr17:58,775,588...58,779,730
Ensembl chr17:58,776,871...58,779,531
JBrowse link
G VLDLR very low density lipoprotein receptor ISO associated with Kidney Failure, Chronic;mRNA, protein:decreased expression:adipose tissue, skeletal muscle RGD PMID:9507207 RGD:1625577 NCBI chr 1:91,242,010...91,277,030
Ensembl chr 1:91,241,509...91,272,495
JBrowse link
Hypertriglyceridemia, Transient Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPD1 glycerol-3-phosphate dehydrogenase 1 ISO OMIM NCBI chr27:4,614,878...4,622,013
Ensembl chr27:4,614,864...4,621,922
JBrowse link
sitosterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Sitosterolemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:11099417, PMID:11138003, PMID:11452359, PMID:11907139, PMID:15375183, PMID:17228349, PMID:17976197, PMID:19111681, PMID:20521169, PMID:20543520, PMID:20719861, PMID:21729603, PMID:24033266, PMID:24166850, PMID:24423340, PMID:25665839, PMID:25741868, PMID:26813946, PMID:27291889, PMID:28203044, PMID:28492532, PMID:28521186, PMID:28771437, PMID:29353225, PMID:29886606, PMID:30985648, PMID:31060161, PMID:31064749 RGD:631968 NCBI chr10:46,261,747...46,300,084
Ensembl chr10:46,271,772...46,299,773
JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Sitosterolemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:3706300, PMID:4360855, PMID:6110091, PMID:11099417, PMID:11264985, PMID:11452359, PMID:11893785, PMID:12124998, PMID:15054092, PMID:15996216, PMID:16029460, PMID:17632509, PMID:20854103, PMID:21039838, PMID:21274884, PMID:22898925, PMID:23241408, PMID:24033266, PMID:24657386, PMID:25073796, PMID:25741868, PMID:27291889, PMID:28492532, PMID:28521186, PMID:28739549, PMID:31064749 RGD:1300331, RGD:631968 NCBI chr10:46,300,142...46,319,592
Ensembl chr10:46,300,165...46,319,229
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 chr10:46,231,433...46,270,102
Ensembl chr10:46,231,460...46,290,382
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 chr10:46,261,747...46,300,084
Ensembl chr10:46,271,772...46,299,773
JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 ISO OMIM NCBI chr10:46,300,142...46,319,592
Ensembl chr10:46,300,165...46,319,229
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 chr10:46,231,433...46,270,102
Ensembl chr10:46,231,460...46,290,382
JBrowse link
Sitosterolemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG5 ATP binding cassette subfamily G member 5 ISO OMIM NCBI chr10:46,261,747...46,300,084
Ensembl chr10:46,271,772...46,299,773
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 chr10:46,300,142...46,319,592
Ensembl chr10:46,300,165...46,319,229
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 chr10:46,231,433...46,270,102
Ensembl chr10:46,231,460...46,290,382
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12699
    Nutritional and Metabolic Diseases 3685
      disease of metabolism 3685
        lipid metabolism disorder 730
          familial hyperlipidemia 164
            Hypercholesterolemia + 81
            Hyperlipoproteinemias + 33
            Hypertriglyceridemia + 54
            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 12699
    Developmental Diseases 8992
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7841
        genetic disease 7381
          inherited metabolic disorder 2007
            lipid metabolism disorder 730
              Dyslipidemias 184
                familial hyperlipidemia 164
                  Hypercholesterolemia + 81
                  Hyperlipoproteinemias + 33
                  Hypertriglyceridemia + 54
                  familial chylomicronemia syndrome + 5
                  familial combined hyperlipidemia + 14
                  familial hypercholesterolemia + 15
                  glycogen storage disease IX + 4
                  hyperlipoproteinemia type V 1
paths to the root

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