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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


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familial hyperlipidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 treatment ISO RGD PMID:17026988, PMID:23185768 RGD:1598533, RGD:21408557 NCBI chr 9:104,781,006...104,928,232
Ensembl chr 9:104,781,006...104,928,155
JBrowse link
G ABCB1 ATP binding cassette subfamily B member 1 susceptibility ISO
IAGP
CTD Direct Evidence: marker/mechanism
DNA:SNP::2677G>T/A(rs2032582)(human)
CTD PMID:24502637, PMID:26922556 RGD:11574565 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
Ensembl chr 7:87,503,017...87,713,323
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 chr 2:43,806,154...43,838,840
Ensembl chr 2:43,812,472...43,838,865
JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 susceptibility IAGP sitosterolemia;DNA:missense mutation, nonsense mutation: :p.G574A, 1083G>A RGD PMID:12671028 RGD:1601097 NCBI chr 2:43,831,942...43,882,988
Ensembl chr 2:43,831,942...43,882,988
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing treatment ISO RGD PMID:24308182 RGD:8695929 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G ADRB2 adrenoceptor beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16027735 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,825,245...148,828,687
JBrowse link
G ADRB3 adrenoceptor beta 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16027735 NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599
JBrowse link
G ALB albumin ISO DNA:mutation RGD PMID:6468510 RGD:1601160 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G ANGPTL4 angiopoietin like 4 ISO RGD PMID:15837923, PMID:12401877 RGD:1625354, RGD:1578349 NCBI chr19:8,364,129...8,374,373
Ensembl chr19:8,363,289...8,374,370
JBrowse link
G APC APC regulator of WNT signaling pathway EXP CTD Direct Evidence: marker/mechanism CTD PMID:17546600 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G APOB apolipoprotein B treatment IAGP
ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:17658632, PMID:7627691, PMID:15716585 RGD:1578419, RGD:14401726 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO RGD PMID:11116209 RGD:1626277 NCBI chr12:7,649,400...7,670,599
Ensembl chr12:7,649,400...7,665,908
JBrowse link
G APOC2 apolipoprotein C2 susceptibility IAGP RGD PMID:1782747 RGD:1599175 NCBI chr19:44,946,051...44,949,565
Ensembl chr19:44,945,971...44,949,566
Ensembl chr19:44,945,971...44,949,566
JBrowse link
G APOC3 apolipoprotein C3 treatment ISO RGD PMID:23542898 RGD:10054091 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072
JBrowse link
G APOE apolipoprotein E treatment IEA
ISO
EXP
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 chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G BCHE butyrylcholinesterase IEP protein:increased expression:serum RGD PMID:15219807 RGD:1601321 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
JBrowse link
G CCL2 C-C motif chemokine ligand 2 treatment IDA RGD PMID:19525846 RGD:11528561 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G CD40LG CD40 ligand IEP RGD PMID:21485068 RGD:5490594 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CETP cholesteryl ester transfer protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:10519734 NCBI chr16:56,961,950...56,983,845
Ensembl chr16:56,961,923...56,983,845
JBrowse link
G CRP C-reactive protein ISO protein:increased expression:serum: RGD PMID:24308182 RGD:8695929 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO RGD PMID:23002367 RGD:14700877 NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
JBrowse link
G F3 coagulation factor III, tissue factor IEP protein:increased expression:plasma RGD PMID:8914465 RGD:11060253 NCBI chr 1:94,529,173...94,541,759
Ensembl chr 1:94,529,173...94,541,759
JBrowse link
G F7 coagulation factor VII ISO protein:increased expression:plasma (rat) RGD PMID:11776312 RGD:2312300 NCBI chr13:113,105,773...113,120,685
Ensembl chr13:113,105,788...113,120,681
Ensembl chr13:113,105,788...113,120,681
JBrowse link
G GCG glucagon EXP CTD Direct Evidence: therapeutic CTD PMID:69995 NCBI chr 2:162,142,882...162,152,247
Ensembl chr 2:162,142,882...162,152,404
JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO mRNA:increased expression:gastrocnemius RGD PMID:16555472 RGD:1624365 NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,769...69,387,254
Ensembl chr 2:69,319,769...69,387,254
JBrowse link
G GNB3 G protein subunit beta 3 susceptibility IAGP associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :825C>T (human) RGD PMID:17161225 RGD:2313205 NCBI chr12:6,840,922...6,847,393
Ensembl chr12:6,839,954...6,847,393
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 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949
JBrowse link
G HSPA1B heat shock protein family A (Hsp70) member 1B IAGP 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 chr 6:31,827,738...31,830,254
Ensembl chr 6:31,827,738...31,830,254
JBrowse link
G IRS1 insulin receptor substrate 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10591678 NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,317...226,799,759
JBrowse link
G KL klotho ISO RGD PMID:10892340 RGD:1581732 NCBI chr13:33,016,063...33,066,143
Ensembl chr13:33,016,423...33,066,143
JBrowse link
G LCAT lecithin-cholesterol acyltransferase ISO RGD PMID:12935429 RGD:1581787 NCBI chr16:67,939,750...67,944,120
Ensembl chr16:67,939,750...67,944,131
JBrowse link
G LDLR low density lipoprotein receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:11947894, PMID:25619500 NCBI chr19:11,089,432...11,133,820
Ensembl chr19:11,089,462...11,133,820
Ensembl chr19:11,089,462...11,133,820
JBrowse link
G LEP leptin ISO mRNA:decreased expression:liver, adipose tissue (rat) RGD PMID:17671736 RGD:10053616 NCBI chr 7:128,241,201...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G LEPR leptin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:25222487 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
JBrowse link
G LIPC lipase C, hepatic type ISO
EXP
protein:reduced expression:plasma (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:1883393, PMID:12935429 RGD:1581787 NCBI chr15:58,410,457...58,569,844
Ensembl chr15:58,410,569...58,569,844
JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:20199424 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,614,443...126,701,032
Ensembl chr 9:126,614,443...126,701,032
JBrowse link
G LPL lipoprotein lipase treatment IAGP
ISO
EXP
ClinVar Annotator: match by term: Hyperlipidemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1598907, PMID:17658632, PMID:30311386, PMID:9920508, PMID:29931882 RGD:1556571, RGD:13794383 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
JBrowse link
G MIR125A microRNA 125a ISO RGD PMID:31988048 RGD:21403676 NCBI chr19:51,693,254...51,693,339
Ensembl chr19:51,693,254...51,693,339
JBrowse link
G MMP9 matrix metallopeptidase 9 IEP associated with Diabetes Mellitus, Type 2 RGD PMID:16490430 RGD:1642030 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MTTP microsomal triglyceride transfer protein ISO RGD PMID:12191589 RGD:1625489 NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,563,761...99,623,999
JBrowse link
G MYBPC3 myosin binding protein C3 IAGP 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 chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702
JBrowse link
G NEIL1 nei like DNA glycosylase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21285402 NCBI chr15:75,346,638...75,357,115
Ensembl chr15:75,346,955...75,357,115
JBrowse link
G NOS3 nitric oxide synthase 3 ISO
EXP
protein:increased phosphorylation:aorta
CTD Direct Evidence: marker/mechanism
CTD PMID:11457755, PMID:17895290 RGD:2292129 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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 chr10:73,909,182...73,917,497
Ensembl chr10:73,909,177...73,917,496
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha EXP CTD Direct Evidence: therapeutic CTD PMID:21640707 NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,756
JBrowse link
G PPARGC1B PPARG coactivator 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:17932310 NCBI chr 5:149,730,302...149,857,861
Ensembl chr 5:149,730,298...149,855,022
JBrowse link
G RGN regucalcin ISO RGD PMID:15375596 RGD:9590273 NCBI chr  X:47,078,414...47,093,313
Ensembl chr  X:47,078,355...47,093,314
JBrowse link
G SDC1 syndecan 1 ISO RGD PMID:17403197 RGD:1643125 NCBI chr 2:20,200,797...20,225,475
Ensembl chr 2:20,200,797...20,225,433
JBrowse link
G SERPINC1 serpin family C member 1 ISO protein:increased expression:plasma RGD PMID:17283885 RGD:11035268 NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,804...173,917,378
JBrowse link
G SERPINF2 serpin family F member 2 ISO RGD PMID:2313941 RGD:1625536 NCBI chr17:1,742,808...1,755,265
Ensembl chr17:1,742,836...1,755,265
Ensembl chr17:1,742,836...1,755,265
JBrowse link
G SHC1 SHC adaptor protein 1 ISO RGD PMID:15044008 RGD:1643177 NCBI chr 1:154,962,298...154,974,492
Ensembl chr 1:154,962,298...154,974,395
JBrowse link
G SLC27A1 solute carrier family 27 member 1 ISO RGD PMID:15281014 RGD:1642794 NCBI chr19:17,468,745...17,506,169
Ensembl chr19:17,468,769...17,506,168
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 chr12:50,085,236...50,100,707
Ensembl chr12:50,085,200...50,100,707
JBrowse link
G TFPI tissue factor pathway inhibitor IEP protein:increased expression:plasma: RGD PMID:8914465 RGD:11060253 NCBI chr 2:187,464,230...187,554,501
Ensembl chr 2:187,464,230...187,565,760
JBrowse link
G TGFB1 transforming growth factor beta 1 treatment ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney cortex
associated with Chronic Kidney Failure;mRNA:increased expression:kidney
RGD PMID:19001732, PMID:16834981 RGD:2306735, RGD:1601559 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO RGD PMID:18159007 RGD:2313110 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
JBrowse link
G VLDLR very low density lipoprotein receptor ISO RGD PMID:10985956 RGD:1625570 NCBI chr 9:2,621,786...2,660,056
Ensembl chr 9:2,621,787...2,660,056
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 IAGP ClinVar Annotator: match by term: Hyperalphalipoproteinemia 2 ClinVar
OMIM
PMID:2022742, PMID:19074352, PMID:24941081, PMID:24941082, PMID:25962519, PMID:28406212 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072
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 IAGP ClinVar Annotator: match by term: Hypercholesterolemia, autosomal recessive
ClinVar Annotator: match by term: Familial hypercholesterolemia 4
ClinVar
OMIM
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 1:25,543,588...25,590,400
Ensembl chr 1:25,543,606...25,568,886
Ensembl chr 1:25,543,606...25,568,886
JBrowse link
Broad-Betalipoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E IAGP 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 chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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 IAGP OMIM NCBI chr11:116,789,367...116,792,420
Ensembl chr11:116,789,367...116,792,420
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 IAGP 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 chr19:44,946,051...44,949,565
Ensembl chr19:44,945,971...44,949,566
Ensembl chr19:44,945,971...44,949,566
JBrowse link
G APOC4-APOC2 APOC4-APOC2 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE IB ClinVar PMID:1349286, PMID:1628605, PMID:1782747, PMID:1971748, PMID:2477392, PMID:2592354, PMID:3263393, PMID:3944267, PMID:3944271, PMID:7815420, PMID:7923858, PMID:8323539, PMID:8490626, PMID:12783430, PMID:25741868, PMID:28492532 NCBI chr19:44,942,238...44,949,565
Ensembl chr19:44,942,238...44,949,565
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 IAGP DNA:polymorphism: :p.Gly460Trp (human) RGD PMID:11775124 RGD:1559299 NCBI chr 4:2,843,844...2,930,065
Ensembl chr 4:2,843,857...2,930,076
JBrowse link
G ALPL alkaline phosphatase, biomineralization associated IEP RGD PMID:16336518 RGD:1601173 NCBI chr 1:21,508,984...21,578,412
Ensembl chr 1:21,509,397...21,578,410
JBrowse link
G APOA2 apolipoprotein A2 IEP protein:increased expression:plasma: RGD PMID:12738753 RGD:1300287 NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,292...161,223,631
JBrowse link
G APOB apolipoprotein B IEP
IAGP
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: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, PMID:16797745 RGD:1601200 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G APOB3'MAR APOB 3' scaffold/matrix attachment region IAGP ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb ClinVar PMID:19602640, PMID:22923420, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 2:21,000,401...21,001,841 JBrowse link
G APOC3 apolipoprotein C3 no_association ISO
IAGP
DNA:haplotype, snp:3' utr:g.3175G>C (human) RGD PMID:15863838, PMID:9812922, PMID:9062353 RGD:1601225, RGD:5685676, RGD:5685674 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072
JBrowse link
G APOE apolipoprotein E IAGP DNA:missense mutations, haplotype:cds:p.C112R, p.R158C (human) RGD PMID:17127808, PMID:12915220 RGD:1601231, RGD:1578481 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G FASLG Fas ligand EXP CTD Direct Evidence: marker/mechanism CTD PMID:15063428 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP DNA:haplotype: :rs6031558,rs745975, rs3212198(human) RGD PMID:18340007 RGD:12904697 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,700...44,434,596
JBrowse link
G LIPC lipase C, hepatic type IAGP RGD PMID:16338252 RGD:1580512 NCBI chr15:58,410,457...58,569,844
Ensembl chr15:58,410,569...58,569,844
JBrowse link
G LOC106560211 APOB 5' regulatory region IAGP ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb ClinVar PMID:12655413, PMID:22095935, PMID:24498611, PMID:24503134, PMID:25741868, PMID:28492532 NCBI chr 2:21,041,088...21,049,341 JBrowse link
G LPL lipoprotein lipase IAGP 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 chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
JBrowse link
G SERPINE1 serpin family E member 1 IEP protein:increased expression:plasma: RGD PMID:18417194 RGD:13207412 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G THBD thrombomodulin IEP RGD PMID:15262191 RGD:1601645 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
JBrowse link
G USF1 upstream transcription factor 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to
CTD
ClinVar
PMID:14991056, PMID:16076849 NCBI chr 1:161,039,251...161,045,977
Ensembl chr 1:161,039,251...161,045,977
JBrowse link
G VWF von Willebrand factor IEP protein:increased expression:plasma: RGD PMID:18417194 RGD:13207412 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
Ensembl chr12:5,948,877...6,124,770
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 IAGP 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 NCBI chr 8:143,213,218...143,217,170
Ensembl chr 8:143,213,218...143,217,170
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 IAGP 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 9:104,781,006...104,928,232
Ensembl chr 9:104,781,006...104,928,155
JBrowse link
G APOA2 apolipoprotein A2 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar
OMIM
PMID:12522687 NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,292...161,223,631
JBrowse link
G APOB apolipoprotein B IAGP 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
DNA:deletion:promoter, exon:
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: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, PMID:3627182 RGD:11527221 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G APOB3'MAR APOB 3' scaffold/matrix attachment region IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar PMID:19602640, PMID:22923420, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 2:21,000,401...21,001,841 JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:14756670, PMID:17094996, PMID:19538517, PMID:20045108, PMID:22698793, PMID:25741868 NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524
JBrowse link
G EPHX2 epoxide hydrolase 2 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia OMIM
ClinVar
PMID:10862610, PMID:12522687, PMID:14673705, PMID:14732757, PMID:15845398 NCBI chr 8:27,491,143...27,597,559
Ensembl chr 8:27,490,781...27,545,564
JBrowse link
G GHR growth hormone receptor IAGP ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia OMIM
ClinVar
PMID:25741868, PMID:26467025 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878
JBrowse link
G GK glycerol kinase ISO RGD PMID:10642898 RGD:13702898 NCBI chr  X:30,653,348...30,731,462
Ensembl chr  X:30,653,359...30,731,456
JBrowse link
G LDLR low density lipoprotein receptor IAGP 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: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL
ClinVar Annotator: match by term: Familial hypercholesterolemias
ClinVar
OMIM
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:1933004, 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:9714107, 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:12732381, 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:16020744, 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:21600525, PMID:21600530, 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:22398274, 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:23651751, PMID:23669246, PMID:23680767, PMID:23815734, PMID:23820649, PMID:23833242, PMID:23956253, 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:25769531, 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: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:31689621, PMID:32113782, PMID:165423944, PMID:220236128 NCBI chr19:11,089,432...11,133,820
Ensembl chr19:11,089,462...11,133,820
Ensembl chr19:11,089,462...11,133,820
JBrowse link
G LDLR-AS1 LDLR antisense RNA 1 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar Annotator: match by term: Familial hypercholesterolemias
ClinVar PMID:1301956, PMID:1319734, PMID:1348044, PMID:1727071, PMID:2318961, PMID:2324680, PMID:2544509, PMID:2805380, PMID:2837085, PMID:3343347, PMID:3472763, PMID:3627182, PMID:7548065, PMID:7603991, PMID:7635461, PMID:7903864, PMID:7937987, PMID:7979249, PMID:8098448, PMID:8589690, PMID:8664911, PMID:8678915, PMID:8831933, PMID:9237510, PMID:9259195, PMID:9610768, PMID:9660059, PMID:9763532, PMID:9925649, PMID:10206683, PMID:10484771, PMID:10782930, PMID:11005141, PMID:11298777, PMID:11462246, PMID:11600564, PMID:11668640, PMID:11792717, PMID:11933210, PMID:12052488, PMID:12205127, PMID:12406975, PMID:12436241, PMID:14616764, PMID:14756670, PMID:14974088, PMID:15199436, PMID:15241806, PMID:15303010, PMID:15359125, PMID:15523646, PMID:15556094, PMID:15823276, PMID:15936313, PMID:16250003, PMID:16286607, PMID:16314194, PMID:16542394, PMID:17094996, PMID:17347910, PMID:17625505, PMID:17765246, PMID:18096825, PMID:18325082, PMID:18648394, PMID:19007590, PMID:19318025, PMID:19411563, PMID:19446849, PMID:19837725, PMID:20145306, PMID:20236128, PMID:20428891, PMID:20663204, PMID:20828696, PMID:21310417, PMID:21376320, PMID:21382890, PMID:21538688, PMID:21868016, PMID:21935675, PMID:22353362, PMID:22691586, PMID:22698793, PMID:22881376, PMID:22883975, PMID:22923420, PMID:23130880, PMID:23375686, PMID:23680767, PMID:24055113, PMID:24075752, PMID:24373485, PMID:24507775, PMID:24627126, PMID:25248394, PMID:25487149, PMID:25637381, PMID:25647241, PMID:25741868, PMID:26020417, PMID:26361156, PMID:26415676, PMID:27175606, PMID:27765764, PMID:27824480, PMID:28104544, PMID:28145427, PMID:28492532, PMID:31345425 NCBI chr19:11,089,068...11,089,659 JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:25,543,588...25,590,400
Ensembl chr 1:25,543,606...25,568,886
Ensembl chr 1:25,543,606...25,568,886
JBrowse link
G LOC106560211 APOB 5' regulatory region IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar PMID:22095935, PMID:24033266, PMID:24498611, PMID:24503134, PMID:25741868, PMID:28492532, PMID:31345425 NCBI chr 2:21,041,088...21,049,341 JBrowse link
G MIR6886 microRNA 6886 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: Familial hypercholesterolemias
ClinVar PMID:1609792, PMID:2777800, PMID:7616128, PMID:8872473, PMID:9254862, PMID:10090473, PMID:10441197, PMID:10735632, PMID:11668640, PMID:11857755, PMID:12436241, PMID:15199436, PMID:15241806, PMID:19007590, PMID:19208450, PMID:19318025, PMID:19411563, PMID:19538517, PMID:20663204, PMID:20809525, PMID:21382890, PMID:21475731, PMID:22390909, PMID:22698793, PMID:22881376, PMID:23375686, PMID:24033266, PMID:24075752, PMID:24627126, PMID:25154303, PMID:25525159, PMID:25637381, PMID:25741868, PMID:26036859, PMID:27765764, PMID:27821657, PMID:28492532 NCBI chr19:11,113,474...11,113,534
Ensembl chr19:11,113,474...11,113,534
JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 IAGP 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 1:55,039,548...55,064,852
Ensembl chr 1:55,039,447...55,064,852
Ensembl chr 1:55,039,447...55,064,852
JBrowse link
G PON2 paraoxonase 2 IAGP DNA:missense mutation:cds:p.S311C (human) RGD PMID:16776623 RGD:1642625 NCBI chr 7:95,404,862...95,435,028
Ensembl chr 7:95,404,862...95,435,329
JBrowse link
G PPP1R17 protein phosphatase 1 regulatory subunit 17 IAGP OMIM NCBI chr 7:31,687,215...31,710,158
Ensembl chr 7:31,687,215...31,708,455
JBrowse link
G SERPINE1 serpin family E member 1 IEP protein:increased expression:serum: RGD PMID:19004443 RGD:13207334 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:1998642, PMID:25741868 NCBI chr19:10,960,997...11,062,277
Ensembl chr19:10,960,932...11,079,426
Ensembl chr19:10,960,932...11,079,426
JBrowse link
G STAP1 signal transducing adaptor family member 1 IAGP ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:26036859 NCBI chr 4:67,558,727...67,607,337
Ensembl chr 4:67,558,727...67,607,337
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 IAGP 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 chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G APOB3'MAR APOB 3' scaffold/matrix attachment region IAGP ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B ClinVar PMID:19602640, PMID:22923420, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 2:21,000,401...21,001,841 JBrowse link
G LOC106560211 APOB 5' regulatory region IAGP ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B ClinVar PMID:12655413, PMID:22095935, PMID:24498611, PMID:24503134, PMID:25741868, PMID:28492532 NCBI chr 2:21,041,088...21,049,341 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 IAGP 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 chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
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 IAGP ClinVar Annotator: match by term: Lipase deficiency combined ClinVar
OMIM
PMID:17994020, PMID:19820022, PMID:28492532 NCBI chr16:853,634...981,613
Ensembl chr16:975,761...981,596
Ensembl chr16:975,761...981,596
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 IAGP ClinVar Annotator: match by term: Hyperlipoproteinemia, type I ClinVar PMID:25741868 NCBI chr11:116,789,367...116,792,420
Ensembl chr11:116,789,367...116,792,420
JBrowse link
G APOC2 apolipoprotein C2 IAGP
EXP
ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE IB
ClinVar Annotator: match by term: C-II ANAPOLIPOPROTEINEMIA
CTD Direct Evidence: marker/mechanism
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 chr19:44,946,051...44,949,565
Ensembl chr19:44,945,971...44,949,566
Ensembl chr19:44,945,971...44,949,566
JBrowse link
G APOC4-APOC2 APOC4-APOC2 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE IB
ClinVar Annotator: match by term: C-II ANAPOLIPOPROTEINEMIA
ClinVar PMID:1349286, PMID:1628605, PMID:1782747, PMID:1971748, PMID:2477392, PMID:2592354, PMID:3263393, PMID:3944267, PMID:3944271, PMID:7815420, PMID:7923858, PMID:8323539, PMID:8490626, PMID:12783430, PMID:25741868, PMID:28492532 NCBI chr19:44,942,238...44,949,565
Ensembl chr19:44,942,238...44,949,565
JBrowse link
G LPL lipoprotein lipase IAGP ClinVar Annotator: match by term: Hyperlipoproteinemia, type I
ClinVar Annotator: match by term: Hyperlipemia essential familial
ClinVar Annotator: match by term: Lipase D deficiency
DNA:missense mutation:exon:p.D156G (human)
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:9973300, PMID:1907278, PMID:16431216 RGD:1556752, RGD:1302536, RGD:1580533 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
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 IAGP ClinVar Annotator: match by term: Glycogen storage disease IXa2
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
OMIM
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:12872839, PMID:17689125, PMID:18950708, PMID:21634085, PMID:21646031, PMID:21857251, 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:18,892,298...18,984,114
Ensembl chr  X:18,892,298...18,984,114
JBrowse link
G PHKA2-AS1 PHKA2 antisense RNA 1 IAGP ClinVar Annotator: match by term: GSD VIII
ClinVar Annotator: match by term: Glycogen storage disease type IXa1
ClinVar PMID:2303074, PMID:5306139, PMID:7847371, PMID:7959740, PMID:8733133, PMID:9870210, PMID:10330341, PMID:11286390, PMID:12872839, PMID:17689125, PMID:18950708, PMID:21646031, PMID:21857251, PMID:21911307, PMID:22899091, PMID:24055370, PMID:25266922, PMID:25741868, PMID:26157701, PMID:28468868, PMID:28492532, PMID:28627441 NCBI chr  X:18,890,296...18,894,975
Ensembl chr  X:18,890,296...18,894,974
JBrowse link
glycogen storage disease IXb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC112449713 Sharpr-MPRA regulatory region 10524 IAGP ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:25741868, PMID:28492532 NCBI chr16:47,499,658...47,499,952 JBrowse link
G PHKB phosphorylase kinase regulatory subunit beta IAGP ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar
OMIM
PMID:9215682, PMID:9402963, PMID:12825073, PMID:17689125, PMID:18950708, PMID:21646031, PMID:25070466, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr16:47,461,299...47,701,523
Ensembl chr16:47,461,123...47,701,523
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 IAGP ClinVar Annotator: match by term: Glycogen storage disease IXc
ClinVar Annotator: match by term: Glycogen storage disease type IXc
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 chr16:30,748,425...30,761,176
Ensembl chr16:30,748,293...30,761,176
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 IAGP ClinVar Annotator: match by term: Glycogen storage disease IXd ClinVar
OMIM
PMID:2252364, PMID:7874115, PMID:8145916, PMID:9731190, PMID:12825073, PMID:15637709, PMID:18401027, PMID:22238410, PMID:25741868, PMID:28492532 NCBI chr  X:72,578,814...72,714,306
Ensembl chr  X:72,578,814...72,714,319
JBrowse link
G PHKA1-AS1 PHKA1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Glycogen storage disease IXd ClinVar PMID:25741868, PMID:28492532 NCBI chr  X:72,688,949...72,712,348
Ensembl chr  X:72,688,950...72,712,348
JBrowse link
hyperalphalipoproteinemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CETP cholesteryl ester transfer protein IAGP ClinVar Annotator: match by term: CHOLESTEROL ESTER TRANSFER PROTEIN DEFICIENCY
ClinVar Annotator: match by term: Hyperalphalipoproteinemia 1
ClinVar Annotator: match by term: High density lipoprotein cholesterol level quantitative trait locus 10
ClinVar
OMIM
PMID:2215607, PMID:2390095, PMID:2586614, PMID:6738363, PMID:7605382, PMID:7962532, PMID:7989465, PMID:8408659, PMID:14559957, PMID:17190939, PMID:17952847, PMID:18468607, PMID:20068209, PMID:24497850, PMID:25201589, PMID:25741868, PMID:28492532, PMID:28506971 NCBI chr16:56,961,950...56,983,845
Ensembl chr16:56,961,923...56,983,845
JBrowse link
Hyperapobetalipoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LPL lipoprotein lipase IAGP 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 chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha susceptibility IAGP ClinVar Annotator: match by term: Hyperapobetalipoproteinemia, susceptibility to ClinVar
OMIM
PMID:10828087, PMID:12006394, PMID:15309680 NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,756
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 IEA
ISO
EXP
mRNA:increased expression:liver, jejunum (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:22022523, PMID:15118671, PMID:24619822 RGD:1331525, RGD:19165129 NCBI chr 9:104,781,006...104,928,232
Ensembl chr 9:104,781,006...104,928,155
JBrowse link
G ABCB11 ATP binding cassette subfamily B member 11 ISO RGD PMID:21726512 RGD:14688050 NCBI chr 2:168,915,468...169,031,396
Ensembl chr 2:168,915,498...169,031,324
JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 IAGP DNA:polymorphism: :p.M429V RGD PMID:15816807 RGD:1601094 NCBI chr 2:43,831,942...43,882,988
Ensembl chr 2:43,831,942...43,882,988
JBrowse link
G ACAT2 acetyl-CoA acetyltransferase 2 ISO RGD PMID:11100118 RGD:1556516 NCBI chr 6:159,762,045...159,779,112
Ensembl chr 6:159,762,045...159,779,112
JBrowse link
G ALPL alkaline phosphatase, biomineralization associated ISO RGD PMID:17403193 RGD:1601171 NCBI chr 1:21,508,984...21,578,412
Ensembl chr 1:21,509,397...21,578,410
JBrowse link
G APOA1 apolipoprotein A1 IAGP DNA:polymorphisms: :-75G>A, 83C>T (human) RGD PMID:16309370 RGD:1601184 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G APOB apolipoprotein B ISO
IAGP
EXP
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 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G APOC2 apolipoprotein C2 susceptibility IAGP associated with Hypertriglyceridemia;DNA:missense mutation: :p.K38Q (human) RGD PMID:8490626 RGD:1601207 NCBI chr19:44,946,051...44,949,565
Ensembl chr19:44,945,971...44,949,566
Ensembl chr19:44,945,971...44,949,566
JBrowse link
G APOC3 apolipoprotein C3 IAGP RGD PMID:2879788 RGD:1578447 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072
JBrowse link
G APOE apolipoprotein E susceptibility
severity
IAGP
ISO
EXP
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: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:17289397, PMID:19605830, PMID:19667110, PMID:20031551, PMID:20031582, PMID:21043830, PMID:22022523, PMID:22228805, PMID:22381401, PMID:22992668, PMID:23060451, PMID:23296339, PMID:23571587, PMID:24033266, PMID:25741868, PMID:27260402, PMID:30311386, PMID:17217375, PMID:28808185, PMID:21357213, PMID:1411543 RGD:1601229, RGD:13703132, RGD:6903838, RGD:734968 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G ATM ATM serine/threonine kinase susceptibility ISO RGD PMID:15863839 RGD:1601249 NCBI chr11:108,222,484...108,369,102
Ensembl chr11:108,222,832...108,369,102
Ensembl chr11:108,222,832...108,369,102
JBrowse link
G CASP3 caspase 3 ISO RGD PMID:24484682 RGD:13782354 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,649,509
JBrowse link
G CASP9 caspase 9 ISO RGD PMID:24484682 RGD:13782354 NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
JBrowse link
G CD36 CD36 molecule IAGP RGD PMID:10946357 RGD:11040931 NCBI chr 7:80,602,207...80,679,277
Ensembl chr 7:80,369,575...80,679,277
JBrowse link
G CD40 CD40 molecule treatment ISO protein:increased expression:serum RGD PMID:21574786, PMID:21574786 RGD:7248754, RGD:7248754 NCBI chr20:46,118,242...46,129,858
Ensembl chr20:46,118,278...46,129,863
JBrowse link
G CD40LG CD40 ligand treatment IDA
ISO
associated with Diabetes Mellitus, Type 2
protein:increased expression:platelet (rat)
RGD PMID:18787388, PMID:21574786, PMID:26950185 RGD:7248428, RGD:7248754, RGD:11344960 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CES1 carboxylesterase 1 EXP CTD Direct Evidence: therapeutic CTD PMID:12773168 NCBI chr16:55,802,851...55,833,127
Ensembl chr16:55,802,851...55,833,337
JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 IAGP ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:30311386 NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126
JBrowse link
G COL3A1 collagen type III alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:21852083 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G CPB2 carboxypeptidase B2 IEP associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:16123492 RGD:2313641 NCBI chr13:46,053,066...46,105,033
Ensembl chr13:46,053,186...46,105,033
JBrowse link
G CSF1 colony stimulating factor 1 ISO RGD PMID:9158105 RGD:1641957 NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992
JBrowse link
G CTF1 cardiotrophin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21803294 NCBI chr16:30,895,824...30,903,560
Ensembl chr16:30,896,614...30,903,547
Ensembl chr16:30,896,614...30,903,547
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO mRNA:decreased expression:liver RGD PMID:16472823 RGD:13782194 NCBI chr 7:92,112,153...92,134,803
Ensembl chr 7:92,112,153...92,134,803
JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 EXP
ISO
CTD Direct Evidence: therapeutic
mRNA:decreased expression:liver
CTD PMID:8245718, PMID:16472823 RGD:13782194 NCBI chr 8:58,490,178...58,500,163
Ensembl chr 8:58,490,178...58,500,163
JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link
G EDN1 endothelin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15486036 NCBI chr 6:12,256,463...12,297,194
Ensembl chr 6:12,290,361...12,297,194
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 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G FBXW4 F-box and WD repeat domain containing 4 IAGP ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:30311386 NCBI chr10:101,610,664...101,695,295
Ensembl chr10:101,610,664...101,695,295
JBrowse link
G FGF2 fibroblast growth factor 2 IEP associated with Carcinoma, Ductal, Breast RGD PMID:15491965 RGD:8655598 NCBI chr 4:122,826,708...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:21966115 RGD:10449170 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,531,391...154,547,572
JBrowse link
G GSR glutathione-disulfide reductase treatment ISO RGD PMID:24770475, PMID:24120393 RGD:10401874, RGD:10401896 NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846
JBrowse link
G HMBS hydroxymethylbilane synthase IEP associated with Porphyria, Acute Intermittent (MeSH:D017118); protein:reduced activity:erythrocytes RGD PMID:2809566 RGD:2301684 NCBI chr11:119,084,864...119,093,549
Ensembl chr11:119,084,866...119,093,549
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase IMP
ISO
EXP
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 5:75,336,334...75,362,116
Ensembl chr 5:75,336,329...75,362,101
JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha resistance IAGP Finnish and Mexican populations; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1B (2-1-1) RGD PMID:16804065 RGD:1601642 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,700...44,434,596
JBrowse link
G HP haptoglobin IEP protein:increased expression:plasma RGD PMID:16944942 RGD:1626342 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 IDA RGD PMID:12921987 RGD:1624216 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
JBrowse link
G ICAM1 intercellular adhesion molecule 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IL1B interleukin 1 beta IEP protein:increased expression:serum RGD PMID:17330503 RGD:1626623 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 susceptibility IAGP DNA:SNP:intron:rs3821831, homozygous C allele associated with higher total and HDL cholesterol
ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to
ClinVar PMID:14661079, PMID:14661079 RGD:1627650 NCBI chr 3:52,812,962...52,830,672
Ensembl chr 3:52,812,962...52,830,688
JBrowse link
G LDLR low density lipoprotein receptor ISO
IAGP
IEP
EXP
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: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: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: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: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:31345425, PMID:16741953, PMID:20028367, PMID:27378433, PMID:28469073 RGD:1581819, RGD:21410185, RGD:12910104, RGD:12910100 NCBI chr19:11,089,432...11,133,820
Ensembl chr19:11,089,462...11,133,820
Ensembl chr19:11,089,462...11,133,820
JBrowse link
G LDLR-AS1 LDLR antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypercholesterolemia
ClinVar Annotator: match by term: Hypercholesterolaemia
ClinVar PMID:12436241, PMID:15556094, PMID:15823276, PMID:16250003, PMID:17347910, PMID:19318025, PMID:20145306, PMID:21310417, PMID:21935675, PMID:22698793, PMID:22883975, PMID:22923420, PMID:23130880, PMID:23375686, PMID:24055113, PMID:24373485, PMID:24507775, PMID:24627126, PMID:25487149, PMID:25637381, PMID:25647241, PMID:25741868, PMID:26020417, PMID:26361156, PMID:26415676, PMID:27175606, PMID:27824480, PMID:28145427, PMID:28492532 NCBI chr19:11,089,068...11,089,659 JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 IAGP 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 1:25,543,588...25,590,400
Ensembl chr 1:25,543,606...25,568,886
Ensembl chr 1:25,543,606...25,568,886
JBrowse link
G LEP leptin ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:25086370, PMID:22948215 RGD:12904911 NCBI chr 7:128,241,201...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G LIPC lipase C, hepatic type ISO
IEP
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:liver (mouse)
associated with Diabetes Mellitus; protein:decreased expression:plasma (human)
protein, mRNA:decreased expression:plasma, liver (rat)
RGD PMID:11279518, PMID:6340423, PMID:7830494 RGD:2308841, RGD:2308850, RGD:2308793 NCBI chr15:58,410,457...58,569,844
Ensembl chr15:58,410,569...58,569,844
JBrowse link
G LPA lipoprotein(a) EXP CTD Direct Evidence: marker/mechanism CTD PMID:12697372 NCBI chr 6:160,531,482...160,664,275
Ensembl chr 6:160,531,483...160,664,259
Ensembl chr 6:160,531,483...160,664,259
JBrowse link
G LPL lipoprotein lipase EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypercholesterolemia
CTD
ClinVar
PMID:1598907, PMID:21852083, PMID:30311386 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
JBrowse link
G LSS lanosterol synthase ISO mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271 NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824
JBrowse link
G MIF macrophage migration inhibitory factor ISO mRNA:increased expression:glomerulus RGD PMID:9158105 RGD:1641957 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
JBrowse link
G MIR223 microRNA 223 ISO RGD PMID:25246565 RGD:21408582 NCBI chr  X:66,018,870...66,018,979
Ensembl chr  X:66,018,870...66,018,979
JBrowse link
G MIR6886 microRNA 6886 IAGP ClinVar Annotator: match by term: Hypercholesterolaemia ClinVar PMID:7616128, PMID:9254862, PMID:10090473, PMID:10441197, PMID:10735632, PMID:11668640, PMID:11857755, PMID:12436241, PMID:15199436, PMID:15241806, PMID:19208450, PMID:21382890, PMID:21475731, PMID:22390909, PMID:24033266, PMID:25154303, PMID:25525159, PMID:25637381, PMID:25741868, PMID:26036859, PMID:27765764, PMID:28492532 NCBI chr19:11,113,474...11,113,534
Ensembl chr19:11,113,474...11,113,534
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271 NCBI chr16:88,651,935...88,663,153
Ensembl chr16:88,651,935...88,663,161
JBrowse link
G MYLK myosin light chain kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21052790 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332
JBrowse link
G NCF1 neutrophil cytosolic factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14871415 NCBI chr 7:74,773,962...74,789,376
Ensembl chr 7:74,773,962...74,789,376
JBrowse link
G NOX1 NADPH oxidase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20832062 NCBI chr  X:100,843,324...100,874,359
Ensembl chr  X:100,843,324...100,874,359
JBrowse link
G NPC1L1 NPC1 like intracellular cholesterol transporter 1 ISO RGD PMID:15671032 RGD:1642184 NCBI chr 7:44,512,440...44,541,651
Ensembl chr 7:44,512,535...44,541,330
Ensembl chr 7:44,512,535...44,541,330
JBrowse link
G NPY neuropeptide Y IAGP associated with Obesity;DNA:missense mutation:cds:p.L7P (human) RGD PMID:11689216 RGD:1580177 NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862
JBrowse link
G NR4A3 nuclear receptor subfamily 4 group A member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16005304 NCBI chr 9:99,821,885...99,866,893
Ensembl chr 9:99,821,855...99,866,891
JBrowse link
G PAPPA pappalysin 1 IEP protein:increased expression:serum
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum
RGD PMID:14661010, PMID:15531533 RGD:1642329, RGD:1642328 NCBI chr 9:116,153,752...116,402,321
Ensembl chr 9:116,153,791...116,402,321
JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12730697 NCBI chr 1:55,039,548...55,064,852
Ensembl chr 1:55,039,447...55,064,852
Ensembl chr 1:55,039,447...55,064,852
JBrowse link
G PON1 paraoxonase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16229851 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G PPP1R17 protein phosphatase 1 regulatory subunit 17 IAGP ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to ClinVar PMID:12955585 NCBI chr 7:31,687,215...31,710,158
Ensembl chr 7:31,687,215...31,708,455
JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:28492532, PMID:30311386 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G SCAP SREBF chaperone ISO protein:increased expression:liver RGD PMID:16741953 RGD:1581819 NCBI chr 3:47,413,681...47,477,126
Ensembl chr 3:47,413,681...47,477,126
JBrowse link
G SCARB1 scavenger receptor class B member 1 ISO RGD PMID:15967843 RGD:1580004 NCBI chr12:124,776,856...124,863,864
Ensembl chr12:124,776,856...124,882,668
JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:24448499, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 5:218,309...264,816
Ensembl chr 5:218,241...257,082
JBrowse link
G SELE selectin E EXP CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chr 1:169,722,640...169,734,079
Ensembl chr 1:169,722,640...169,764,705
JBrowse link
G SERPINF2 serpin family F member 2 IEP protein:decreased expression:serum RGD PMID:1384011 RGD:1625534 NCBI chr17:1,742,808...1,755,265
Ensembl chr17:1,742,836...1,755,265
Ensembl chr17:1,742,836...1,755,265
JBrowse link
G SOAT2 sterol O-acyltransferase 2 susceptibility ISO RGD PMID:11100118 RGD:1556516 NCBI chr12:53,103,486...53,124,535
Ensembl chr12:53,103,486...53,124,535
JBrowse link
G SQLE squalene epoxidase ISO mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271 NCBI chr 8:124,998,505...125,022,283
Ensembl chr 8:124,998,497...125,022,283
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 ISO protein:altered localization:liver RGD PMID:16741953 RGD:1581819 NCBI chr17:17,811,334...17,837,017
Ensembl chr17:17,810,399...17,837,011
JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO
IAGP
IEP
protein:altered localization:liver
DNA:polymorphism: :1784G>C (human)
DNA:mutations:exon:p.V623M, p.R645Q (human)
RGD PMID:16741953, PMID:15547298, PMID:18095312, PMID:11950857 RGD:1581819, RGD:1581415, RGD:2308813, RGD:1625197 NCBI chr22:41,833,105...41,907,308
Ensembl chr22:41,833,079...41,907,307
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
JBrowse link
G VEGFA vascular endothelial growth factor A IEP associated with Carcinoma, Ductal, Breast RGD PMID:15491965 RGD:8655598 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G VLDLR very low density lipoprotein receptor ISO RGD PMID:8636110 RGD:1625573 NCBI chr 9:2,621,786...2,660,056
Ensembl chr 9:2,621,787...2,660,056
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 IAGP ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 ClinVar PMID:25741868 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 IAGP ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3
ClinVar Annotator: match by term: Familial hypercholesterolemia 3
ClinVar
OMIM
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 1:55,039,548...55,064,852
Ensembl chr 1:55,039,447...55,064,852
Ensembl chr 1:55,039,447...55,064,852
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 IAGP OMIM NCBI chr 1:161,039,251...161,045,977
Ensembl chr 1:161,039,251...161,045,977
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 9:104,781,006...104,928,232
Ensembl chr 9:104,781,006...104,928,155
JBrowse link
G ADRB2 adrenoceptor beta 2 IAGP DNA:polymorphism: :p.Q27E RGD PMID:17020471 RGD:1601121 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,825,245...148,828,687
JBrowse link
G APOA1 apolipoprotein A1 IAGP DNA:polymorphism:promoter:-75G>A (human) RGD PMID:9699897 RGD:1601186 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G APOA2 apolipoprotein A2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12522687 NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,292...161,223,631
JBrowse link
G APOA4 apolipoprotein A4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304
JBrowse link
G APOB apolipoprotein B TAS
IAGP
EXP
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
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: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, PMID:12730697, PMID:9603795, PMID:17380167 RGD:1580998, RGD:1578415, RGD:1626106 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G APOB3'MAR APOB 3' scaffold/matrix attachment region IAGP ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B
ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb
ClinVar PMID:19602640, PMID:22923420, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 2:21,000,401...21,001,841 JBrowse link
G APOC3 apolipoprotein C3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072
JBrowse link
G APOE apolipoprotein E EXP CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G CETP cholesteryl ester transfer protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr16:56,961,950...56,983,845
Ensembl chr16:56,961,923...56,983,845
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chr 5:75,336,334...75,362,116
Ensembl chr 5:75,336,329...75,362,101
JBrowse link
G LDLR low density lipoprotein receptor IAGP
EXP
IEA
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: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, PMID:1867200, PMID:15118671, PMID:16796766 RGD:5490248, RGD:1331525, RGD:1581824 NCBI chr19:11,089,432...11,133,820
Ensembl chr19:11,089,462...11,133,820
Ensembl chr19:11,089,462...11,133,820
JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 TAS RGD PMID:17380167 RGD:1626106 NCBI chr 1:25,543,588...25,590,400
Ensembl chr 1:25,543,606...25,568,886
Ensembl chr 1:25,543,606...25,568,886
JBrowse link
G LIPC lipase C, hepatic type EXP CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr15:58,410,457...58,569,844
Ensembl chr15:58,410,569...58,569,844
JBrowse link
G LOC106560211 APOB 5' regulatory region IAGP ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B ClinVar PMID:12655413, PMID:22095935, PMID:24498611, PMID:24503134, PMID:25741868, PMID:28492532 NCBI chr 2:21,041,088...21,049,341 JBrowse link
G LPL lipoprotein lipase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
JBrowse link
G MIR6886 microRNA 6886 IAGP ClinVar Annotator: match by term: Hyperlipoproteinemia Type II
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia
ClinVar PMID:7616128, PMID:9254862, PMID:10090473, PMID:10441197, PMID:10735632, PMID:11668640, PMID:11857755, PMID:12436241, PMID:15199436, PMID:15241806, PMID:19208450, PMID:19411563, PMID:21382890, PMID:21475731, PMID:22390909, PMID:22881376, PMID:24033266, PMID:24075752, PMID:24627126, PMID:25154303, PMID:25525159, PMID:25637381, PMID:25741868, PMID:26036859, PMID:27765764, PMID:27821657, PMID:28492532 NCBI chr19:11,113,474...11,113,534
Ensembl chr19:11,113,474...11,113,534
JBrowse link
G MMP9 matrix metallopeptidase 9 IEP protein:increased expression:serum RGD PMID:16280123 RGD:1642031 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MTTP microsomal triglyceride transfer protein IDA RGD PMID:17215532 RGD:1625482 NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,563,761...99,623,999
JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 severity IAGP
TAS
DNA:missense mutation:cds:p.D374Y (human)
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia
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:14727179, PMID:15772090, PMID:12730697, PMID:17380167 RGD:1581002, RGD:1581001, RGD:1580998, RGD:1626106 NCBI chr 1:55,039,548...55,064,852
Ensembl chr 1:55,039,447...55,064,852
Ensembl chr 1:55,039,447...55,064,852
JBrowse link
G PON1 paraoxonase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16030523, PMID:16238680 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G PON2 paraoxonase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 7:95,404,862...95,435,028
Ensembl chr 7:95,404,862...95,435,329
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16143024 NCBI chr11:116,789,367...116,792,420
Ensembl chr11:116,789,367...116,792,420
JBrowse link
G APOC3 apolipoprotein C3 IAGP RGD PMID:2879788 RGD:1578447 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072
JBrowse link
G APOE apolipoprotein E IEA
IAGP
EXP
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)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human)
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 chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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 IAGP
EXP
ClinVar Annotator: match by term: Familial hypertriglyceridemia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12915450, PMID:23151256, PMID:23307945, PMID:25741868 NCBI chr11:116,789,367...116,792,420
Ensembl chr11:116,789,367...116,792,420
JBrowse link
G CREB3L3 cAMP responsive element binding protein 3 like 3 IAGP ClinVar Annotator: match by term: Familial hypertriglyceridemia ClinVar PMID:21666694 NCBI chr19:4,153,631...4,173,054
Ensembl chr19:4,153,631...4,173,054
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 IAGP ClinVar Annotator: match by term: Hyperlipoproteinemia Type V ClinVar
OMIM
PMID:16200213 NCBI chr11:116,789,367...116,792,420
Ensembl chr11:116,789,367...116,792,420
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 IEA GAD PMID:15118671 RGD:1331525 NCBI chr16:16,149,565...16,223,617
Ensembl chr16:16,148,928...16,223,522
JBrowse link
G APOA4 apolipoprotein A4 IEP protein:increased expression:blood plasma (human) RGD PMID:226830 RGD:5685673 NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304
JBrowse link
G APOA5 apolipoprotein A5 IAGP associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C, p.S19W (human) RGD PMID:18468520 RGD:2313317 NCBI chr11:116,789,367...116,792,420
Ensembl chr11:116,789,367...116,792,420
JBrowse link
G APOC2 apolipoprotein C2 susceptibility IAGP
IEP
DNA:missense mutation: :p.L72P (human)
protein:increased expression:serum
RGD PMID:16153625, PMID:1468157 RGD:1601204, RGD:1601208 NCBI chr19:44,946,051...44,949,565
Ensembl chr19:44,945,971...44,949,566
Ensembl chr19:44,945,971...44,949,566
JBrowse link
G APOC3 apolipoprotein C3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:2022742 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072
JBrowse link
G APOH apolipoprotein H IEP RGD PMID:6613192 RGD:2313992 NCBI chr17:66,212,033...66,229,415
Ensembl chr17:66,212,033...66,256,525
JBrowse link
G CETP cholesteryl ester transfer protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:2215607, PMID:8408659 NCBI chr16:56,961,950...56,983,845
Ensembl chr16:56,961,923...56,983,845
JBrowse link
G LIPC lipase C, hepatic type IEP
EXP
IAGP
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human)
CTD Direct Evidence: marker/mechanism
associated with Obesity and Diabetes; DNA:transition:promoter:-514C>T (human)
associated with Nephrosis; protein:decreased expression:plasma (rat)
CTD PMID:18160998, PMID:11427226, PMID:15941898, PMID:6480830 RGD:2308834, RGD:2308829, RGD:2308798 NCBI chr15:58,410,457...58,569,844
Ensembl chr15:58,410,569...58,569,844
JBrowse link
G PON1 paraoxonase 1 treatment IDA
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:15324535, PMID:15324535 RGD:8547684 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:10828087 NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,756
JBrowse link
G SERPINF2 serpin family F member 2 IEP RGD PMID:6121140 RGD:1625537 NCBI chr17:1,742,808...1,755,265
Ensembl chr17:1,742,836...1,755,265
Ensembl chr17:1,742,836...1,755,265
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 ISO RGD PMID:23994635 RGD:13831127 NCBI chr14:73,493,021...73,543,799
Ensembl chr14:73,537,143...73,543,796
JBrowse link
G ACP1 acid phosphatase 1 IAGP associated with Obesity RGD PMID:12409270 RGD:1625288 NCBI chr 2:264,947...278,283
Ensembl chr 2:264,140...278,283
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing IAGP associated with HIV Infections RGD PMID:21595566 RGD:8694463 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G ADRB2 adrenoceptor beta 2 IEA GAD PMID:15118671 RGD:1331525 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,825,245...148,828,687
JBrowse link
G AHSG alpha 2-HS glycoprotein IEP protein:increased expression:serum RGD PMID:19228823 RGD:2313809 NCBI chr 3:186,613,060...186,621,318
Ensembl chr 3:186,613,060...186,621,318
JBrowse link
G ANGPTL3 angiopoietin like 3 ISO RGD PMID:12672813 RGD:1578347 NCBI chr 1:62,597,520...62,606,313
Ensembl chr 1:62,597,520...62,606,313
JBrowse link
G ANGPTL4 angiopoietin like 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28842503 NCBI chr19:8,364,129...8,374,373
Ensembl chr19:8,363,289...8,374,370
JBrowse link
G APOA1 apolipoprotein A1 no_association IAGP DNA:polymorphism:promoter:-75G>A RGD PMID:7910586 RGD:1601187 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G APOA2 apolipoprotein A2 IAGP DNA:polymorphism RGD PMID:9489233 RGD:1601190 NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,292...161,223,631
JBrowse link
G APOA4 apolipoprotein A4 IMP human gene in mouse model RGD PMID:2167514 RGD:5685672 NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304
JBrowse link
G APOA5 apolipoprotein A5 ISO
IAGP
EXP
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:18468520, PMID:12818421 RGD:2313328, RGD:2313317, RGD:1578414 NCBI chr11:116,789,367...116,792,420
Ensembl chr11:116,789,367...116,792,420
JBrowse link
G APOB apolipoprotein B ISO
EXP
protein:increased expression:plasma (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:20657596, PMID:8121310 RGD:11353966 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G APOC1 apolipoprotein C1 IEP protein:increased expression:plasma RGD PMID:3757210 RGD:2313953 NCBI chr19:44,914,325...44,919,346
Ensembl chr19:44,914,247...44,919,349
JBrowse link
G APOC2 apolipoprotein C2 susceptibility IAGP
IDA
RGD PMID:7590197, PMID:3944267 RGD:1601205, RGD:1601214 NCBI chr19:44,946,051...44,949,565
Ensembl chr19:44,945,971...44,949,566
Ensembl chr19:44,945,971...44,949,566
JBrowse link
G APOC3 apolipoprotein C3 susceptibility IAGP associated with Diabetes Mellitus, Non-Insulin-Dependent or Coronary Disease;DNA:polymorphism RGD PMID:7705829, PMID:15715433 RGD:1578444, RGD:2306767 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072
JBrowse link
G APOE apolipoprotein E susceptibility IAGP
ISO
IEA
associated with Metabolic Syndrome X; DNA:missense mutations:cds:p.C112R, p.R158C (human)
ClinVar Annotator: match by term: Hypertriglyceridemia
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:19605830, PMID:22381401, PMID:23060451, PMID:23296339, PMID:23571587, PMID:24033266, PMID:25741868, PMID:27260402, PMID:28492532, PMID:30311386, PMID:15713714, PMID:28808185, PMID:15118671 RGD:1601235, RGD:13703132, RGD:1331525 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G BCHE butyrylcholinesterase IEP
EXP
associated with diabetes mellitus
CTD Direct Evidence: marker/mechanism
CTD PMID:23000450, PMID:8149699 RGD:1601335 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
JBrowse link
G CELA2A chymotrypsin like elastase 2A IAGP ClinVar Annotator: match by term: Hypertriglyceridemia ClinVar PMID:31358993 NCBI chr 1:15,456,732...15,472,091
Ensembl chr 1:15,456,728...15,472,091
JBrowse link
G CETP cholesteryl ester transfer protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr16:56,961,950...56,983,845
Ensembl chr16:56,961,923...56,983,845
JBrowse link
G CFTR CF transmembrane conductance regulator IAGP associated with Pancreatitis;DNA:missense mutation, haplotype: :p.I556V (human) RGD PMID:17981921 RGD:11566035 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G CRP C-reactive protein EXP CTD Direct Evidence: therapeutic CTD PMID:11893366 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 treatment ISO RGD PMID:18183944 RGD:10401058 NCBI chr 8:144,314,584...144,326,852
Ensembl chr 8:144,314,584...144,326,910
JBrowse link
G F7 coagulation factor VII IEP associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) RGD PMID:19329212 RGD:2312379 NCBI chr13:113,105,773...113,120,685
Ensembl chr13:113,105,788...113,120,681
Ensembl chr13:113,105,788...113,120,681
JBrowse link
G FABP2 fatty acid binding protein 2 IAGP DNA:polymorphism:CDS:amino acid A54T, in a normal glucose tolerant population from urban south India
associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.A54T (human)
RGD PMID:16919542, PMID:10999802 RGD:1626401, RGD:1300313 NCBI chr 4:119,317,250...119,322,138
Ensembl chr 4:119,317,250...119,322,138
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:22947172 RGD:10449176 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,531,391...154,547,572
JBrowse link
G GCKR glucokinase regulator EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertriglyceridemia
CTD
ClinVar
PMID:20657596, PMID:22182842, PMID:25741868 NCBI chr 2:27,496,839...27,523,689
Ensembl chr 2:27,496,839...27,523,684
JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 IDA RGD PMID:11118009 RGD:1625423 NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,769...69,387,254
Ensembl chr 2:69,319,769...69,387,254
JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP Finnish and Mexican populations; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1A (1-1-2) RGD PMID:16804065 RGD:1601642 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,700...44,434,596
JBrowse link
G IFNA2 interferon alpha 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12643008 NCBI chr 9:21,384,255...21,385,398
Ensembl chr 9:21,384,255...21,385,398
JBrowse link
G IL6ST interleukin 6 signal transducer ISO RGD PMID:8843746 RGD:1626687 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022
JBrowse link
G INS insulin EXP CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,341
Ensembl chr11:2,159,779...2,161,341
JBrowse link
G INSIG1 insulin induced gene 1 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chr 7:155,297,878...155,310,235
Ensembl chr 7:155,297,776...155,310,235
JBrowse link
G INSIG2 insulin induced gene 2 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chr 2:118,088,471...118,110,997
Ensembl chr 2:118,088,452...118,110,997
JBrowse link
G LCAT lecithin-cholesterol acyltransferase ISO RGD PMID:14668345 RGD:1581782 NCBI chr16:67,939,750...67,944,120
Ensembl chr16:67,939,750...67,944,131
JBrowse link
G LDLR low density lipoprotein receptor ISO RGD PMID:28469073, PMID:27378433 RGD:12910100, RGD:12910104 NCBI chr19:11,089,432...11,133,820
Ensembl chr19:11,089,462...11,133,820
Ensembl chr19:11,089,462...11,133,820
JBrowse link
G LEP leptin ISO RGD PMID:22948215 RGD:12904911 NCBI chr 7:128,241,201...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G LIPC lipase C, hepatic type IEP associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human) RGD PMID:187516 RGD:2308846 NCBI chr15:58,410,457...58,569,844
Ensembl chr15:58,410,569...58,569,844
JBrowse link
G LIPE lipase E, hormone sensitive type ISO RGD PMID:11016888 RGD:2313581 NCBI chr19:42,401,512...42,427,421
Ensembl chr19:42,401,514...42,427,388
JBrowse link
G LIPI lipase I susceptibility IAGP DNA:polymorphism: :p.C55Y
ClinVar Annotator: match by term: Hypertriglyceridemia, susceptibility to
ClinVar PMID:12719377, PMID:12719377 RGD:1625450 NCBI chr21:14,108,812...14,210,955
Ensembl chr21:14,108,813...14,210,891
JBrowse link
G LMF1 lipase maturation factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17994020 NCBI chr16:853,634...981,613
Ensembl chr16:975,761...981,596
Ensembl chr16:975,761...981,596
JBrowse link
G LOC108491825 enhancer-blocking element 11-1-2 overlapping APOA5 IAGP ClinVar Annotator: match by term: Hypertriglyceridemia, susceptibility to ClinVar PMID:12417524, PMID:12417525 NCBI chr11:116,791,046...116,792,831 JBrowse link
G LPL lipoprotein lipase susceptibility IAGP
EXP
ISO
ClinVar Annotator: match by term: Hypertriglyceridemia
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar
CTD
PMID:8147947, PMID:20657596, PMID:25741868, PMID:17848837, PMID:16431216, PMID:11016888 RGD:2313305, RGD:1580533, RGD:2313581 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
JBrowse link
G LTA lymphotoxin alpha susceptibility
no_association
IAGP associated with Diabetes Mellitus, Non-Insulin-Dependent
DNA:polymorphism
RGD PMID:7783649, PMID:9245742 RGD:1625036, RGD:1625035 NCBI chr 6:31,560,550...31,574,324
Ensembl chr 6:31,572,054...31,574,324
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO associated with Insulin Resistance RGD PMID:20566415 RGD:10040984 NCBI chr 1:11,106,535...11,273,497
Ensembl chr 1:11,106,535...11,262,551
JBrowse link
G NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 ISO associated with obesity RGD PMID:20729114 RGD:13801195 NCBI chr 9:32,553,001...32,573,159
Ensembl chr 9:32,553,001...32,573,184
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:decreased expression:aorta RGD PMID:17824809 RGD:2292131 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G PDE5A phosphodiesterase 5A ISO RGD PMID:18787522 RGD:2314464 NCBI chr 4:119,494,403...119,628,804
Ensembl chr 4:119,494,397...119,628,804
JBrowse link
G PLIN2 perilipin 2 ISO associated with Obesity RGD PMID:17484887 RGD:1625752 NCBI chr 9:19,108,391...19,127,518
Ensembl chr 9:19,108,375...19,149,290
JBrowse link
G PLTP phospholipid transfer protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr20:45,898,620...45,912,155
Ensembl chr20:45,898,621...45,912,155
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,756
JBrowse link
G RP1 RP1 axonemal microtubule associated IAGP ClinVar Annotator: match by term: Hypertriglyceridemia, susceptibility to ClinVar PMID:12764676, PMID:20664799, PMID:25741868 NCBI chr 8:54,509,448...54,871,720
Ensembl chr 8:54,509,422...54,871,720
JBrowse link
G RPS12 ribosomal protein S12 ISO associated with Metabolic Syndrome X;mRNA:increased expression:liver RGD PMID:25294893 RGD:11039460 NCBI chr 6:132,814,569...132,817,564
Ensembl chr 6:132,814,569...132,817,564
JBrowse link
G SERPINF2 serpin family F member 2 IEP protein:increased expression:plasma RGD PMID:9207984 RGD:1625533 NCBI chr17:1,742,808...1,755,265
Ensembl chr17:1,742,836...1,755,265
Ensembl chr17:1,742,836...1,755,265
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr16:11,254,417...11,256,182
Ensembl chr16:11,254,408...11,256,204
Ensembl chr16:11,254,408...11,256,204
JBrowse link
G SOCS3 suppressor of cytokine signaling 3 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr17:78,356,778...78,360,925
Ensembl chr17:78,356,778...78,360,077
JBrowse link
G TRPM1 transient receptor potential cation channel subfamily M member 1 IAGP DNA:SNP:intron:g.59080C>T (rs11070811) (human) RGD PMID:21439949 RGD:7175561 NCBI chr15:31,001,065...31,161,160
Ensembl chr15:31,001,061...31,161,273
JBrowse link
G TXNIP thioredoxin interacting protein susceptibility IAGP associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:3' utr RGD PMID:17381501 RGD:1642750 NCBI chr 1:145,992,435...145,996,579
Ensembl chr 1:145,992,435...145,996,579
JBrowse link
G VLDLR very low density lipoprotein receptor ISO associated with Kidney Failure, Chronic;mRNA, protein:increased expression:adipose tissue, skeletal muscle RGD PMID:9507207 RGD:1625577 NCBI chr 9:2,621,786...2,660,056
Ensembl chr 9:2,621,787...2,660,056
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 IAGP ClinVar Annotator: match by term: Hypertriglyceridemia, transient infantile ClinVar
OMIM
PMID:24549054, PMID:25741868 NCBI chr12:50,104,008...50,111,313
Ensembl chr12:50,103,982...50,111,313
JBrowse link
Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-TI mitochondrially encoded tRNA-Ile (AUU/C) IAGP ClinVar Annotator: match by term: Hypertension, hypercholesterolemia, and hypomagnesemia, mitochondrial ClinVar PMID:15498972 NCBI chr MT:4,263...4,331
Ensembl chr MT:4,263...4,331
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 IAGP
EXP
ClinVar Annotator: match by term: Sitosterolemia
CTD Direct Evidence: marker/mechanism
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 2:43,806,154...43,838,840
Ensembl chr 2:43,812,472...43,838,865
JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 IAGP
EXP
ClinVar Annotator: match by term: Sitosterolemia
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:11452359, PMID:11099417 RGD:631968, RGD:1300331 NCBI chr 2:43,831,942...43,882,988
Ensembl chr 2:43,831,942...43,882,988
JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP 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 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
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 IAGP ClinVar Annotator: match by term: Sitosterolemia 1 ClinVar PMID:11668628, PMID:24503134, PMID:25741868, PMID:27291889, PMID:28492532, PMID:31064749 NCBI chr 2:43,806,154...43,838,840
Ensembl chr 2:43,812,472...43,838,865
JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 IAGP 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 2:43,831,942...43,882,988
Ensembl chr 2:43,831,942...43,882,988
JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP ClinVar Annotator: match by term: Sitosterolemia 1 ClinVar PMID:11668628, PMID:24503134, PMID:25741868, PMID:28492532, PMID:31064749 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
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 IAGP 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 2:43,806,154...43,838,840
Ensembl chr 2:43,812,472...43,838,865
JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 IAGP ClinVar Annotator: match by term: SITOSTEROLEMIA 2 ClinVar PMID:16029460, PMID:20719861 NCBI chr 2:43,831,942...43,882,988
Ensembl chr 2:43,831,942...43,882,988
JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP 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 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    Nutritional and Metabolic Diseases 5145
      disease of metabolism 5145
        lipid metabolism disorder 897
          familial hyperlipidemia 234
            Hypercholesterolemia + 109
            Hyperlipoproteinemias + 46
            Hypertriglyceridemia + 77
            familial chylomicronemia syndrome + 6
            familial combined hyperlipidemia + 18
            familial hypercholesterolemia + 19
            glycogen storage disease IX + 7
            hyperlipoproteinemia type V 1
Path 2
Term Annotations click to browse term
  disease 18864
    Developmental Diseases 12169
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10001
        genetic disease 9471
          inherited metabolic disorder 2443
            lipid metabolism disorder 897
              Dyslipidemias 257
                familial hyperlipidemia 234
                  Hypercholesterolemia + 109
                  Hyperlipoproteinemias + 46
                  Hypertriglyceridemia + 77
                  familial chylomicronemia syndrome + 6
                  familial combined hyperlipidemia + 18
                  familial hypercholesterolemia + 19
                  glycogen storage disease IX + 7
                  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.