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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


show annotations for term's descendants           Sort by:
 
familial hyperlipidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP-binding cassette, sub-family A (ABC1), member 1 treatment ISO RGD PMID:17026988, PMID:23185768 RGD:1598533, RGD:21408557 NCBI chr 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895
JBrowse link
G Abcb1a ATP-binding cassette, sub-family B (MDR/TAP), member 1A susceptibility EXP
ISO
CTD Direct Evidence: marker/mechanism
DNA:SNP::2677G>T/A(rs2032582)(human)
CTD PMID:24502637, PMID:26922556 RGD:11574565 NCBI chr 5:8,567,091...8,748,575
Ensembl chr 5:8,660,077...8,748,575
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 chr17:84,658,174...84,683,011
Ensembl chr17:84,658,234...84,683,011
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 susceptibility ISO sitosterolemia;DNA:missense mutation, nonsense mutation: :p.G574A, 1083G>A RGD PMID:12671028 RGD:1601097 NCBI chr17:84,676,302...84,700,333
Ensembl chr17:84,676,302...84,700,333
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing treatment ISO RGD PMID:24308182 RGD:8695929 NCBI chr16:23,146,536...23,157,968
Ensembl chr16:23,146,536...23,158,028
JBrowse link
G Adrb2 adrenergic receptor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16027735 NCBI chr18:62,177,713...62,179,981
Ensembl chr18:62,177,816...62,179,959
JBrowse link
G Adrb3 adrenergic receptor, beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16027735 NCBI chr 8:27,225,776...27,230,845
Ensembl chr 8:27,225,776...27,250,616
JBrowse link
G Alb albumin ISO DNA:mutation RGD PMID:6468510 RGD:1601160 NCBI chr 5:90,460,870...90,476,602
Ensembl chr 5:90,460,897...90,476,602
JBrowse link
G Angptl4 angiopoietin-like 4 IDA RGD PMID:15837923, PMID:12401877 RGD:1625354, RGD:1578349 NCBI chr17:33,774,900...33,781,575
Ensembl chr17:33,773,750...33,781,830
JBrowse link
G Apc APC, WNT signaling pathway regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:17546600 NCBI chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
JBrowse link
G Apob apolipoprotein B treatment ISO
IMP
CTD Direct Evidence: marker/mechanism CTD PMID:17658632, PMID:7627691, PMID:15716585 RGD:1578419, RGD:14401726 NCBI chr12:7,977,629...8,016,839
Ensembl chr12:7,977,648...8,016,835
JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 ISO RGD PMID:11116209 RGD:1626277 NCBI chr 6:122,577,792...122,603,024
Ensembl chr 6:122,577,792...122,602,444
JBrowse link
G Apoc2 apolipoprotein C-II susceptibility ISO RGD PMID:1782747 RGD:1599175 NCBI chr 7:19,671,579...19,677,941
Ensembl chr 7:19,671,579...19,677,941
JBrowse link
G Apoc3 apolipoprotein C-III treatment IMP RGD PMID:23542898 RGD:10054091 NCBI chr 9:46,233,050...46,235,636
Ensembl chr 9:46,232,933...46,235,636
JBrowse link
G Apoe apolipoprotein E treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:11947894, PMID:12871831, PMID:20530721, PMID:20937366, PMID:15118671, PMID:29459263, PMID:22762542 RGD:1331525, RGD:13703129, RGD:6903856 NCBI chr 7:19,696,244...19,701,310
Ensembl chr 7:19,696,109...19,699,188
JBrowse link
G Bche butyrylcholinesterase ISO protein:increased expression:serum RGD PMID:15219807 RGD:1601321 NCBI chr 3:73,635,805...73,708,436
Ensembl chr 3:73,635,808...73,708,415
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 treatment ISO RGD PMID:19525846 RGD:11528561 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:21485068 RGD:5490594 NCBI chr  X:57,212,143...57,224,042
Ensembl chr  X:57,212,143...57,224,042
JBrowse link
G Ces1g carboxylesterase 1G EXP CTD Direct Evidence: marker/mechanism CTD PMID:24597639 NCBI chr 8:93,302,369...93,337,209
Ensembl chr 8:93,302,369...93,337,308
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO protein:increased expression:serum: RGD PMID:24308182 RGD:8695929 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO RGD PMID:23002367 RGD:14700877 NCBI chr 7:140,763,819...140,774,990
Ensembl chr 7:140,763,739...140,774,987
JBrowse link
G F3 coagulation factor III ISO protein:increased expression:plasma RGD PMID:8914465 RGD:11060253 NCBI chr 3:121,723,537...121,735,052
Ensembl chr 3:121,723,537...121,735,048
JBrowse link
G F7 coagulation factor VII ISO protein:increased expression:plasma (rat) RGD PMID:11776312 RGD:2312300 NCBI chr 8:13,025,506...13,035,809
Ensembl chr 8:13,026,034...13,035,809
JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:69995 NCBI chr 2:62,474,530...62,483,653
Ensembl chr 2:62,474,530...62,483,650
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO mRNA:increased expression:gastrocnemius RGD PMID:16555472 RGD:1624365 NCBI chr 6:87,042,846...87,092,207
Ensembl chr 6:87,042,846...87,092,197
JBrowse link
G Gnb3 guanine nucleotide binding protein (G protein), beta 3 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :825C>T (human) RGD PMID:17161225 RGD:2313205 NCBI chr 6:124,834,240...124,840,275
Ensembl chr 6:124,834,240...124,840,275
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO RGD PMID:14697232 RGD:1625074 NCBI chr 1:193,221,640...193,264,045
Ensembl chr 1:193,221,634...193,264,075
JBrowse link
G Hspa1b heat shock protein 1B ISO associated with advanced age and Diabetes Mellitus, Type 2 (MeSH:D003924) RGD PMID:15992611 RGD:1626649 NCBI chr17:34,956,429...34,959,238
Ensembl chr17:34,956,436...34,959,238
JBrowse link
G Irs1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10591678 NCBI chr 1:82,233,105...82,291,439
Ensembl chr 1:82,233,112...82,235,933
Ensembl chr 1:82,233,112...82,235,933
JBrowse link
G Kl klotho ISO RGD PMID:10892340 RGD:1581732 NCBI chr 5:150,952,607...150,993,817
Ensembl chr 5:150,952,607...150,993,817
JBrowse link
G Lcat lecithin cholesterol acyltransferase ISO RGD PMID:12935429 RGD:1581787 NCBI chr 8:105,939,551...105,943,402
Ensembl chr 8:105,939,551...105,943,382
JBrowse link
G Ldlr low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11947894, PMID:25619500 NCBI chr 9:21,723,576...21,749,919
Ensembl chr 9:21,723,483...21,749,919
JBrowse link
G Lep leptin ISO mRNA:decreased expression:liver, adipose tissue (rat) RGD PMID:17671736 RGD:10053616 NCBI chr 6:29,060,221...29,073,876
Ensembl chr 6:29,060,220...29,073,877
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25222487 NCBI chr 4:101,717,137...101,815,352
Ensembl chr 4:101,717,404...101,815,352
JBrowse link
G Lipc lipase, hepatic ISO protein:reduced expression:plasma (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:1883393, PMID:12935429 RGD:1581787 NCBI chr 9:70,798,128...70,952,221
Ensembl chr 9:70,798,128...70,952,226
JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20199424 NCBI chr 2:33,560,965...33,641,208
Ensembl chr 2:33,560,965...33,640,511
Ensembl chr 2:33,560,965...33,640,511
JBrowse link
G Lpl lipoprotein lipase treatment ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperlipidemia
CTD
ClinVar
PMID:1598907, PMID:17658632, PMID:30311386, PMID:29931882 RGD:13794383 NCBI chr 8:68,880,555...68,906,932
Ensembl chr 8:68,880,491...68,907,448
JBrowse link
G Mir125a microRNA 125a IMP RGD PMID:31988048 RGD:21403676 NCBI chr17:17,830,812...17,830,879
Ensembl chr17:17,830,812...17,830,879
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO associated with Diabetes Mellitus, Type 2 RGD PMID:16490430 RGD:1642030 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Mttp microsomal triglyceride transfer protein ISO RGD PMID:12191589 RGD:1625489 NCBI chr 3:138,089,855...138,143,418
Ensembl chr 3:138,089,854...138,144,968
JBrowse link
G Mybpc3 myosin binding protein C, cardiac ISO ClinVar Annotator: match by term: Hyperlipidemia ClinVar PMID:18533079, PMID:20800588, PMID:23140321, PMID:24033266, PMID:24093860, PMID:25740977, PMID:25741868, PMID:27600940, PMID:30311386 NCBI chr 2:91,118,114...91,136,516
Ensembl chr 2:91,118,144...91,136,516
JBrowse link
G Neil1 nei endonuclease VIII-like 1 (E. coli) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21285402 NCBI chr 9:57,142,788...57,148,688
Ensembl chr 9:57,142,800...57,148,305
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO protein:increased phosphorylation:aorta
CTD Direct Evidence: marker/mechanism
CTD PMID:11457755, PMID:17895290 RGD:2292129 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Plau plasminogen activator, urokinase IEP associated with Venous Thrombosis; protein:increased expression:wall of vein, thrombus (mouse) RGD PMID:22119245 RGD:6903200 NCBI chr14:20,836,662...20,843,388
Ensembl chr14:20,836,660...20,843,385
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: therapeutic CTD PMID:21640707 NCBI chr15:85,734,910...85,806,851
Ensembl chr15:85,734,983...85,802,819
JBrowse link
G Ppargc1b peroxisome proliferative activated receptor, gamma, coactivator 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17932310 NCBI chr18:61,291,445...61,400,756
Ensembl chr18:61,298,136...61,400,431
JBrowse link
G Rgn regucalcin ISO RGD PMID:15375596 RGD:9590273 NCBI chr  X:20,549,766...20,562,089
Ensembl chr  X:20,549,787...20,562,089
JBrowse link
G Sdc1 syndecan 1 ISO RGD PMID:17403197 RGD:1643125 NCBI chr12:8,771,396...8,793,716
Ensembl chr12:8,771,323...8,793,715
JBrowse link
G Serpinc1 serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 ISO protein:increased expression:plasma RGD PMID:17283885 RGD:11035268 NCBI chr 1:160,978,583...161,002,543
Ensembl chr 1:160,978,585...161,005,863
JBrowse link
G Serpinf2 serine (or cysteine) peptidase inhibitor, clade F, member 2 ISO RGD PMID:2313941 RGD:1625536 NCBI chr11:75,431,736...75,439,501
Ensembl chr11:75,431,732...75,439,591
JBrowse link
G Shc1 src homology 2 domain-containing transforming protein C1 ISO RGD PMID:15044008 RGD:1643177 NCBI chr 3:89,418,551...89,430,029
Ensembl chr 3:89,418,443...89,430,027
JBrowse link
G Slc27a1 solute carrier family 27 (fatty acid transporter), member 1 ISO RGD PMID:15281014 RGD:1642794 NCBI chr 8:71,568,728...71,587,307
Ensembl chr 8:71,568,882...71,587,302
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 chr15:99,702,287...99,713,995
Ensembl chr15:99,702,129...99,713,991
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:increased expression:plasma: RGD PMID:8914465 RGD:11060253 NCBI chr 2:84,432,855...84,476,775
Ensembl chr 2:84,432,855...84,476,775
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 chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO RGD PMID:18159007 RGD:2313110 NCBI chr 3:116,110,020...116,129,688
Ensembl chr 3:116,109,949...116,129,688
JBrowse link
G Vldlr very low density lipoprotein receptor IDA RGD PMID:10985956 RGD:1625570 NCBI chr19:27,216,480...27,254,231
Ensembl chr19:27,216,484...27,254,231
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 C-III ISO ClinVar Annotator: match by term: Hyperalphalipoproteinemia 2
ClinVar Annotator: match by OMIM:614028
OMIM
ClinVar
PMID:2022742, PMID:19074352, PMID:24941081, PMID:24941082, PMID:25962519, PMID:28406212 NCBI chr 9:46,233,050...46,235,636
Ensembl chr 9:46,232,933...46,235,636
JBrowse link
autosomal recessive hypercholesterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO
IEA
ClinVar Annotator: match by term: Familial hypercholesterolemia 4
ClinVar Annotator: match by term: Hypercholesterolemia, autosomal recessive
OMIM:603813
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:603813
OMIM
ClinVar
MouseDO
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 4:134,741,554...134,768,032
Ensembl chr 4:134,741,554...134,768,024
JBrowse link
Broad-Betalipoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: Broad beta disease ClinVar PMID:2992507, PMID:3243553, PMID:6300187, PMID:9649566, PMID:16103896, PMID:16143024, PMID:17289397, PMID:19667110, PMID:20031551, PMID:20031582, PMID:22992668, PMID:25741868 NCBI chr 7:19,696,244...19,701,310
Ensembl chr 7:19,696,109...19,699,188
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 A-V ISO OMIM NCBI chr 9:46,268,608...46,271,921
Ensembl chr 9:46,268,633...46,271,919
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 C-II ISO ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE IB ClinVar
OMIM
PMID:213719, PMID:1349286, PMID:1628605, PMID:1782747, PMID:1971748, PMID:2477392, PMID:2592354, PMID:3192518, PMID:3225819, PMID:3263393, PMID:3467353, PMID:3680515, PMID:3944267, PMID:3944271, PMID:7815420, PMID:7923858, PMID:8323539, PMID:8490626, PMID:12783430, PMID:25741868, PMID:28492532 NCBI chr 7:19,671,579...19,677,941
Ensembl chr 7:19,671,579...19,677,941
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 (alpha) ISO DNA:polymorphism: :p.Gly460Trp (human) RGD PMID:11775124 RGD:1559299 NCBI chr 5:34,573,664...34,632,308
Ensembl chr 5:34,573,664...34,632,308
JBrowse link
G Alpl alkaline phosphatase, liver/bone/kidney ISO RGD PMID:16336518 RGD:1601173 NCBI chr 4:137,741,731...137,796,384
Ensembl chr 4:137,741,733...137,796,384
JBrowse link
G Apoa2 apolipoprotein A-II ISO protein:increased expression:plasma: RGD PMID:12738753 RGD:1300287 NCBI chr 1:171,221,564...171,226,379
Ensembl chr 1:171,225,054...171,226,379
JBrowse link
G Apob apolipoprotein B ISO protein:increased expression:plasma
ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb
ClinVar PMID:221546, PMID:1360085, PMID:1431583, PMID:1454832, PMID:1466657, PMID:1493642, PMID:1600334, PMID:1793440, PMID:1977310, PMID:2280177, PMID:2375782, PMID:2563166, PMID:3399894, PMID:3473077, PMID:3477815, PMID:3771801, PMID:7627691, PMID:7670940, PMID:7883971, PMID:8141833, PMID:8254047, PMID:8318509, PMID:8318993, PMID:8371062, PMID:8468533, PMID:8478017, PMID:8723684, PMID:8831935, PMID:8889592, PMID:8931699, PMID:8960785, PMID:9081691, PMID:9104431, PMID:9105560, PMID:9191540, PMID:9254062, PMID:9259199, PMID:9339363, PMID:9486979, PMID:9490296, PMID:9568749, PMID:9603795, PMID:9654205, PMID:9702952, PMID:9925662, PMID:10208479, PMID:10388479, PMID:10529757, PMID:10735632, PMID:10952765, PMID:11031227, PMID:11115503, PMID:11137107, PMID:11238294, PMID:11494965, PMID:11781700, PMID:11810272, PMID:11833852, PMID: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 chr12:7,977,629...8,016,839
Ensembl chr12:7,977,648...8,016,835
JBrowse link
G Apoc3 apolipoprotein C-III no_association IAGP
ISO
DNA:haplotype, snp:3' utr:g.3175G>C (human) RGD PMID:15863838, PMID:9812922, PMID:9062353 RGD:1601225, RGD:5685676, RGD:5685674 NCBI chr 9:46,233,050...46,235,636
Ensembl chr 9:46,232,933...46,235,636
JBrowse link
G Apoe apolipoprotein E ISO DNA:missense mutations, haplotype:cds:p.C112R, p.R158C (human) RGD PMID:17127808, PMID:12915220 RGD:1601231, RGD:1578481 NCBI chr 7:19,696,244...19,701,310
Ensembl chr 7:19,696,109...19,699,188
JBrowse link
G Fasl Fas ligand (TNF superfamily, member 6) ISO CTD Direct Evidence: marker/mechanism CTD PMID:15063428 NCBI chr 1:161,780,691...161,788,495
Ensembl chr 1:161,780,689...161,788,495
JBrowse link
G Hnf4a hepatic nuclear factor 4, alpha ISO DNA:haplotype: :rs6031558,rs745975, rs3212198(human) RGD PMID:18340007 RGD:12904697 NCBI chr 2:163,506,811...163,572,907
Ensembl chr 2:163,506,808...163,572,910
JBrowse link
G Lipc lipase, hepatic ISO RGD PMID:16338252 RGD:1580512 NCBI chr 9:70,798,128...70,952,221
Ensembl chr 9:70,798,128...70,952,226
JBrowse link
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to OMIM
ClinVar
PMID:7647785, PMID:7753827, PMID:8199176, PMID:8541837, PMID:8872057, PMID:9550358, PMID:10364086, PMID:10517255, PMID:11260209, PMID:21146168, PMID:22239554, PMID:24033266, PMID:25741868 NCBI chr 8:68,880,555...68,906,932
Ensembl chr 8:68,880,491...68,907,448
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO protein:increased expression:plasma: RGD PMID:18417194 RGD:13207412 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:15262191 RGD:1601645 NCBI chr 2:148,404,471...148,408,188
Ensembl chr 2:148,404,466...148,408,188
JBrowse link
G Usf1 upstream transcription factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to
CTD
ClinVar
PMID:14991056, PMID:16076849 NCBI chr 1:171,411,307...171,418,954
Ensembl chr 1:171,411,313...171,419,142
JBrowse link
G Vwf Von Willebrand factor ISO protein:increased expression:plasma: RGD PMID:18417194 RGD:13207412 NCBI chr 6:125,552,948...125,686,679
Ensembl chr 6:125,546,774...125,686,679
JBrowse link
familial GPIHBP1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpihbp1 GPI-anchored HDL-binding protein 1 ISO ClinVar Annotator: match by term: Hyperlipoproteinemia, type ID ClinVar
OMIM
PMID:19304573, PMID:20026666, PMID:20124439, PMID:21816778, PMID:22239554, PMID:23806086, PMID:24088041, PMID:24614124, PMID:24847059, PMID:25741868, PMID:28492532 NCBI chr15:75,596,630...75,598,213
Ensembl chr15:75,596,628...75,599,481
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, sub-family A (ABC1), member 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar PMID:19743957, PMID:20800056, PMID:24497850, PMID:25215231, PMID:25741868 NCBI chr 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895
JBrowse link
G Apoa2 apolipoprotein A-II ISO ClinVar Annotator: match by OMIM:143890 OMIM
ClinVar
PMID:12522687 NCBI chr 1:171,221,564...171,226,379
Ensembl chr 1:171,225,054...171,226,379
JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: Familial hypercholesterolemias
DNA:deletion:promoter, exon:
ClinVar PMID:221546, PMID:1360085, PMID:1424233, PMID:1454832, PMID:1466657, PMID:1493642, PMID:1600334, PMID:1793440, PMID: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 chr12:7,977,629...8,016,839
Ensembl chr12:7,977,648...8,016,835
JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:14756670, PMID:17094996, PMID:19538517, PMID:20045108, PMID:22698793, PMID:25741868 NCBI chr 9:21,800,180...21,852,718
Ensembl chr 9:21,799,860...21,852,635
JBrowse link
G Ephx2 epoxide hydrolase 2, cytoplasmic ISO ClinVar Annotator: match by term: Familial hypercholesterolemia OMIM
ClinVar
PMID:10862610, PMID:12522687, PMID:14673705, PMID:14732757, PMID:15845398 NCBI chr14:66,084,372...66,124,522
Ensembl chr14:66,084,374...66,124,500
JBrowse link
G Ghr growth hormone receptor ISO ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia OMIM
ClinVar
PMID:25741868, PMID:26467025 NCBI chr15:3,317,755...3,583,352
Ensembl chr15:3,317,760...3,583,492
JBrowse link
G Gk glycerol kinase ISO RGD PMID:10642898 RGD:13702898 NCBI chr  X:85,701,937...85,776,819
Ensembl chr  X:85,701,937...85,776,819
JBrowse link
G Ldlr low density lipoprotein receptor ISO
IEA
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 Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL
OMIM:143890
ClinVar Annotator: match by OMIM:143890
OMIM
ClinVar
MouseDO
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 chr 9:21,723,576...21,749,919
Ensembl chr 9:21,723,483...21,749,919
JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:25741868, PMID:28492532 NCBI chr 4:134,741,554...134,768,032
Ensembl chr 4:134,741,554...134,768,024
JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: Familial hypercholesterolemias
ClinVar PMID:10357843, PMID:10764678, PMID:11668641, PMID:12175777, PMID:12730697, PMID:14727156, PMID:14727179, PMID:15099351, PMID:15166014, PMID:15358785, PMID:15654334, PMID:15772090, PMID:15893176, PMID:16183066, PMID:16211558, PMID:16224054, PMID:16424354, PMID:16465619, PMID:16554528, PMID:16571601, PMID:16777760, PMID:16909389, PMID:16912035, PMID:17094996, PMID:17140581, PMID:17170371, PMID:17316651, PMID:17461796, PMID:17502126, PMID:17765244, PMID:17804797, PMID:17971861, PMID:18028451, PMID:18197702, PMID:18250299, PMID:18262190, PMID:18266662, PMID:18300938, PMID:18354102, PMID:18436227, PMID:18559913, PMID:18631360, PMID:18710658, PMID:18718593, PMID:18799458, PMID:19001363, PMID:19022446, PMID:19081568, PMID:19191301, PMID:19351729, PMID:19797716, PMID:19917273, PMID:20006333, PMID:20031607, PMID:20172854, PMID:20538126, PMID:20579540, PMID:20959675, PMID:21146822, PMID:21376320, PMID:21943799, PMID:22095935, PMID:22344438, PMID:22417841, PMID:22683120, PMID:22875854, PMID:22923420, PMID:22995991, PMID:23064986, PMID:23105118, PMID:23375686, PMID:23386946, PMID:23535506, PMID:23663650, PMID:23680767, PMID:23743349, PMID:23935525, PMID:23997648, PMID:24033266, PMID:24115837, PMID:24278757, PMID:24507774, PMID:24507775, PMID:24607922, PMID:24785115, PMID:24793346, PMID:24808179, PMID:24859021, PMID:25014035, PMID:25046268, PMID:25278291, PMID:25412415, PMID:25525159, PMID:25600226, PMID:25741868, PMID:25744035, PMID:25904937, PMID:25962062, PMID:26020417, PMID:26036859, PMID:26049403, PMID:26195630, PMID:26332594, PMID:26374825, PMID:26467025, PMID:26541928, PMID:26546829, PMID:26632531, PMID:26636822, PMID:26802169, PMID:26937405, PMID:27050191, PMID:27135400, PMID:27206942, PMID:27218270, PMID:27280970, PMID:27516387, PMID:27765764, PMID:27896130, PMID:27919364, PMID:27998977, PMID:28008010, PMID:28179607, PMID:28302345, PMID:28323660, PMID:28349888, PMID:28360401, PMID:28438747, PMID:28492532, PMID:28587771, PMID:28768753, PMID:28777095, PMID:28965616, PMID:29036232, PMID:29083407, PMID:29127338, PMID:29259136, PMID:29261184, PMID:29399563, PMID:29438441, PMID:29459468, PMID:29593013, PMID:29982529, PMID:29997226, PMID:30779729, PMID:31106297, PMID:31386798 NCBI chr 4:106,442,334...106,464,325
Ensembl chr 4:106,442,329...106,464,329
JBrowse link
G Pon2 paraoxonase 2 ISO DNA:missense mutation:cds:p.S311C (human) RGD PMID:16776623 RGD:1642625 NCBI chr 6:5,264,620...5,298,345
Ensembl chr 6:5,264,147...5,298,455
JBrowse link
G Ppp1r17 protein phosphatase 1, regulatory subunit 17 ISO OMIM NCBI chr 6:56,017,497...56,032,689
Ensembl chr 6:56,017,497...56,032,689
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO protein:increased expression:serum: RGD PMID:19004443 RGD:13207334 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:1998642, PMID:25741868 NCBI chr 9:21,616,106...21,704,230
Ensembl chr 9:21,616,169...21,704,230
JBrowse link
G Stap1 signal transducing adaptor family member 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:26036859 NCBI chr 5:86,071,584...86,106,125
Ensembl chr 5:86,071,746...86,106,125
JBrowse link
Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B ClinVar PMID:221546, PMID:1360085, PMID:1431583, PMID:1454832, PMID:1466657, PMID:1493642, PMID:1600334, PMID:1793440, PMID:1977310, PMID:2280177, PMID:2375782, PMID:2563166, PMID:3399894, PMID:3473077, PMID:3477815, PMID:3771801, PMID:7627691, PMID:7670940, PMID:7883971, PMID:8141833, PMID:8254047, PMID:8318509, PMID:8318993, PMID:8371062, PMID:8468533, PMID:8478017, PMID:8723684, PMID:8831935, PMID:8889592, PMID:8931699, PMID:8960785, PMID:9081691, PMID:9104431, PMID:9105560, PMID:9191540, PMID:9254062, PMID:9259199, PMID:9339363, PMID:9486979, PMID:9490296, PMID:9568749, PMID:9603795, PMID:9654205, PMID:9702952, PMID:9925662, PMID:10208479, PMID:10388479, PMID:10529757, PMID:10735632, PMID:10952765, PMID:11031227, PMID:11115503, PMID:11137107, PMID:11238294, PMID:11494965, PMID:11781700, PMID:11810272, PMID:11833852, PMID: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 chr12:7,977,629...8,016,839
Ensembl chr12:7,977,648...8,016,835
JBrowse link
Familial Hyperchylomicronemia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Hyperlipoproteinemia type 1 ClinVar PMID:1562620, PMID:1576758, PMID:1598907, PMID:1731801, PMID:1737848, PMID:1907278, PMID:10735636, PMID:16174715, PMID:23246289, PMID:25741868, PMID:30311386 NCBI chr 8:68,880,555...68,906,932
Ensembl chr 8:68,880,491...68,907,448
JBrowse link
familial lipase maturation factor 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmf1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: Lipase deficiency combined
ClinVar Annotator: match by OMIM:246650
OMIM
ClinVar
PMID:17994020, PMID:19820022, PMID:28492532 NCBI chr17:25,579,174...25,662,831
Ensembl chr17:25,579,085...25,662,826
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 A-V ISO ClinVar Annotator: match by term: Hyperlipoproteinemia, type I ClinVar PMID:25741868 NCBI chr 9:46,268,608...46,271,921
Ensembl chr 9:46,268,633...46,271,919
JBrowse link
G Apoc2 apolipoprotein C-II ISO ClinVar Annotator: match by OMIM:207750
ClinVar Annotator: match by term: C-II ANAPOLIPOPROTEINEMIA
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE IB
ClinVar
CTD
PMID:213719, PMID:1349286, PMID:1628605, PMID:1782747, PMID:1971748, PMID:2477392, PMID:2592354, PMID:3192518, PMID:3225819, PMID:3263393, PMID:3467353, PMID:3680515, PMID:3944267, PMID:3944271, PMID:7815420, PMID:7923858, PMID:8323539, PMID:8490626, PMID:12783430, PMID:25741868, PMID:28492532 NCBI chr 7:19,671,579...19,677,941
Ensembl chr 7:19,671,579...19,677,941
JBrowse link
G Lpl lipoprotein lipase ISO
IEA
ClinVar Annotator: match by term: Hyperlipoproteinemia, type I
ClinVar Annotator: match by term: Hyperlipemia essential familial
OMIM:118830 | OMIM:238600
DNA:missense mutation:exon:p.D156G (human)
ClinVar Annotator: match by OMIM:238600
ClinVar
MouseDO
OMIM
PMID:1351946, PMID:1400331, PMID:1479292, PMID:1505655, PMID:1511985, PMID:1512512, PMID:1530621, PMID:1562620, PMID:1576758, PMID:1598907, PMID:1639392, PMID:1674945, PMID:1702428, PMID:1731801, PMID:1737848, PMID:1752947, PMID:1872917, PMID:1907278, PMID:1937490, PMID:1969408, PMID:1975597, PMID:2010533, PMID:2038366, PMID:2110364, PMID:2121025, PMID:2294743, PMID:2349938, PMID:2394828, PMID:2536938, PMID:2914262, PMID:6645961, PMID:7647785, PMID:7818530, PMID:7906986, PMID:8096693, PMID:8099055, PMID:8135797, PMID:8199176, PMID:8228642, PMID:8288243, PMID:8325986, PMID:8486765, PMID:8541837, PMID:8567671, PMID:8843465, PMID:8858123, PMID:8872057, PMID:9225235, PMID:9401010, PMID:9714430, PMID:10364086, PMID:10407505, PMID:10517255, PMID:10735636, PMID:11134145, PMID:11334614, PMID:11893776, PMID:15840743, PMID:15877202, PMID:16174715, PMID:16972177, PMID:17717288, PMID:18068174, PMID:18350203, PMID:18649389, PMID:21146168, PMID:21159338, PMID:22095987, PMID:22129523, PMID:22239554, PMID:23246289, PMID:23484243, PMID:24033266, PMID:24212298, PMID:24291057, PMID:24793350, PMID:25741868, PMID:25966443, PMID:26342331, PMID:27055971, PMID:27573733, PMID:28438574, PMID:28492532, PMID:28606150, PMID:29153744, PMID:29288010, PMID:29748148, PMID:30150141, PMID:30311386, PMID:16431216, PMID:9973300, PMID:1907278 RGD:1580533, RGD:1556752, RGD:1302536 NCBI chr 8:68,880,555...68,906,932
Ensembl chr 8:68,880,491...68,907,448
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 alpha 2 ISO
IAGP
ClinVar Annotator: match by term: Glycogen storage disease type IXa1
DNA:mutations:multiple
DNA:missense mutations:multiple
ClinVar Annotator: match by term: GSD VIII
ClinVar Annotator: match by term: Glycogen storage disease IXa2
ClinVar Annotator: match by OMIM:306000
OMIM
ClinVar
PMID:2303074, PMID:5306139, PMID:7711737, PMID:7847371, PMID:7959740, PMID:8733133, PMID:8733134, PMID:9600238, PMID:9835437, PMID:9870210, PMID:10330341, PMID:11286390, PMID:12862311, PMID: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:160,501,904...160,598,879
Ensembl chr  X:160,502,166...160,598,878
JBrowse link
glycogen storage disease IXb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phkb phosphorylase kinase beta ISO ClinVar Annotator: match by term: Glycogen storage disease IXb
ClinVar Annotator: match by OMIM:261750
OMIM
ClinVar
PMID:9215682, PMID:9402963, PMID:12825073, PMID:17689125, PMID:18950708, PMID:21646031, PMID:25070466, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:85,840,853...86,064,251
Ensembl chr 8:85,840,959...86,061,376
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, gamma 2 (testis) ISO ClinVar Annotator: match by term: Glycogen storage disease IXc
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:613027
OMIM
ClinVar
PMID:2558039, PMID:6962066, PMID:7562285, PMID:8896567, PMID:9384616, PMID:10905889, PMID:12930917, PMID:17689125, PMID:24102521, PMID:24389071, PMID:25741868, PMID:28492532 NCBI chr 7:127,573,345...127,583,307
Ensembl chr 7:127,573,340...127,583,307
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 alpha 1 ISO
IEA
ClinVar Annotator: match by term: Glycogen storage disease IXd
OMIM:300559
ClinVar Annotator: match by term: GSD IXd
ClinVar Annotator: match by OMIM:300559
OMIM
ClinVar
MouseDO
PMID:2252364, PMID:7874115, PMID:8145916, PMID:9731190, PMID:12825073, PMID:15637709, PMID:18401027, PMID:22238410, PMID:25741868, PMID:28492532 NCBI chr  X:102,513,975...102,644,301
Ensembl chr  X:102,513,975...102,644,246
JBrowse link
Hyperapobetalipoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Hyperapobetalipoproteinemia ClinVar PMID:1351946, PMID:1400331, PMID:1479292, PMID:1505655, PMID:1511985, PMID:1674945, PMID:1702428, PMID:1752947, PMID:1872917, PMID:1969408, PMID:1975597, PMID:2038366, PMID:2394828, PMID:2914262, PMID:6645961, PMID:7647785, PMID:7906986, PMID:8099055, PMID:8541837, PMID:9401010, PMID:11334614, PMID:11893776, PMID:15877202, PMID:16972177, PMID:17717288, PMID:18068174, PMID:18350203, PMID:21159338, PMID:22095987, PMID:22239554, PMID:23484243, PMID:25741868, PMID:25966443, PMID:27055971, PMID:27573733, PMID:28267856, PMID:28438574, PMID:28492532, PMID:29153744, PMID:29288010 NCBI chr 8:68,880,555...68,906,932
Ensembl chr 8:68,880,491...68,907,448
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha susceptibility ISO ClinVar Annotator: match by term: Hyperapobetalipoproteinemia, susceptibility to ClinVar
OMIM
PMID:10828087, PMID:12006394, PMID:15309680 NCBI chr15:85,734,910...85,806,851
Ensembl chr15:85,734,983...85,802,819
JBrowse link
Hypercholesterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP-binding cassette, sub-family A (ABC1), member 1 ISO mRNA:increased expression:liver, jejunum (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:22022523, PMID:15118671, PMID:24619822 RGD:1331525, RGD:19165129 NCBI chr 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895
JBrowse link
G Abcb11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 IDA RGD PMID:21726512 RGD:14688050 NCBI chr 2:69,238,282...69,342,616
Ensembl chr 2:69,238,282...69,342,616
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO DNA:polymorphism: :p.M429V RGD PMID:15816807 RGD:1601094 NCBI chr17:84,676,302...84,700,333
Ensembl chr17:84,676,302...84,700,333
JBrowse link
G Acat2 acetyl-Coenzyme A acetyltransferase 2 IMP RGD PMID:11100118 RGD:1556516 NCBI chr17:12,943,042...12,960,725
Ensembl chr17:12,942,890...12,960,747
JBrowse link
G Alpl alkaline phosphatase, liver/bone/kidney ISO RGD PMID:17403193 RGD:1601171 NCBI chr 4:137,741,731...137,796,384
Ensembl chr 4:137,741,733...137,796,384
JBrowse link
G Apoa1 apolipoprotein A-I ISO DNA:polymorphisms: :-75G>A, 83C>T (human) RGD PMID:16309370 RGD:1601184 NCBI chr 9:46,228,630...46,230,469
Ensembl chr 9:46,228,580...46,230,466
JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Hypercholesterolemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1600334, PMID:24033266, PMID:25741868, PMID:26415676, PMID:26467025, PMID:27578127, PMID:28492532, PMID:16581047 RGD:1599167 NCBI chr12:7,977,629...8,016,839
Ensembl chr12:7,977,648...8,016,835
JBrowse link
G Apoc2 apolipoprotein C-II susceptibility ISO associated with Hypertriglyceridemia;DNA:missense mutation: :p.K38Q (human) RGD PMID:8490626 RGD:1601207 NCBI chr 7:19,671,579...19,677,941
Ensembl chr 7:19,671,579...19,677,941
JBrowse link
G Apoc3 apolipoprotein C-III ISO RGD PMID:2879788 RGD:1578447 NCBI chr 9:46,233,050...46,235,636
Ensembl chr 9:46,232,933...46,235,636
JBrowse link
G Apoe apolipoprotein E susceptibility
severity
ISO
IMP
DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human)
ClinVar Annotator: match by term: Hypercholesterolemia
CTD Direct Evidence: marker/mechanism
associated with Kidney Failure, Chronic; DNA:missense mutations, haplotype:cds:p.C130R, p.C176R (human)
ClinVar
CTD
PMID: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 chr 7:19,696,244...19,701,310
Ensembl chr 7:19,696,109...19,699,188
JBrowse link
G Atm ataxia telangiectasia mutated susceptibility IMP RGD PMID:15863839 RGD:1601249 NCBI chr 9:53,437,122...53,536,828
Ensembl chr 9:53,439,149...53,536,740
JBrowse link
G Casp3 caspase 3 ISO RGD PMID:24484682 RGD:13782354 NCBI chr 8:46,617,291...46,639,698
Ensembl chr 8:46,617,291...46,639,689
JBrowse link
G Casp9 caspase 9 ISO RGD PMID:24484682 RGD:13782354 NCBI chr 4:141,793,612...141,815,978
Ensembl chr 4:141,793,612...141,815,976
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:10946357 RGD:11040931 NCBI chr 5:17,781,690...17,888,959
Ensembl chr 5:17,781,690...17,888,801
JBrowse link
G Cd40 CD40 antigen treatment ISO protein:increased expression:serum RGD PMID:21574786, PMID:21574786 RGD:7248754, RGD:7248754 NCBI chr 2:165,055,614...165,071,654
Ensembl chr 2:165,055,627...165,072,948
JBrowse link
G Cd40lg CD40 ligand treatment ISO associated with Diabetes Mellitus, Type 2
protein:increased expression:platelet (rat)
RGD PMID:18787388, PMID:21574786, PMID:26950185 RGD:7248428, RGD:7248754, RGD:11344960 NCBI chr  X:57,212,143...57,224,042
Ensembl chr  X:57,212,143...57,224,042
JBrowse link
G Ces1d carboxylesterase 1D ISO CTD Direct Evidence: therapeutic CTD PMID:12773168 NCBI chr 8:93,166,072...93,197,804
Ensembl chr 8:93,166,068...93,197,838
JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:30311386 NCBI chr14:52,198,151...52,258,042
Ensembl chr14:52,198,151...52,257,780
JBrowse link
G Col3a1 collagen, type III, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21852083 NCBI chr 1:45,311,538...45,349,706
Ensembl chr 1:45,311,538...45,349,706
JBrowse link
G Cpb2 carboxypeptidase B2 (plasma) ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:16123492 RGD:2313641 NCBI chr14:75,242,287...75,283,555
Ensembl chr14:75,242,287...75,283,555
JBrowse link
G Csf1 colony stimulating factor 1 (macrophage) ISO RGD PMID:9158105 RGD:1641957 NCBI chr 3:107,741,048...107,760,469
Ensembl chr 3:107,741,048...107,760,469
JBrowse link
G Ctf1 cardiotrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21803294 NCBI chr 7:127,712,676...127,718,188
Ensembl chr 7:127,712,736...127,718,192
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO mRNA:decreased expression:liver RGD PMID:16472823 RGD:13782194 NCBI chr 5:4,080,674...4,104,697
Ensembl chr 5:4,081,145...4,104,746
JBrowse link
G Cyp7a1 cytochrome P450, family 7, subfamily a, polypeptide 1 ISO CTD Direct Evidence: therapeutic
mRNA:decreased expression:liver
CTD PMID:8245718, PMID:16472823 RGD:13782194 NCBI chr 4:6,265,612...6,275,632
Ensembl chr 4:6,265,612...6,275,633
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr13:38,151,294...38,198,577
Ensembl chr13:38,151,294...38,198,577
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15486036 NCBI chr13:42,301,476...42,307,990
Ensembl chr13:42,301,476...42,307,990
JBrowse link
G Eng endoglin treatment IEP
IDA
protein:increased expression, aortic root, aortic arch, endothelium (mouse) RGD PMID:17901886, PMID:17901886 RGD:7257552, RGD:7257552 NCBI chr 2:32,646,595...32,682,669
Ensembl chr 2:32,646,595...32,682,669
JBrowse link
G Fbxw4 F-box and WD-40 domain protein 4 ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:30311386 NCBI chr19:45,578,254...45,660,520
Ensembl chr19:45,578,254...45,660,312
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO associated with Carcinoma, Ductal, Breast RGD PMID:15491965 RGD:8655598 NCBI chr 3:37,348,477...37,410,106
Ensembl chr 3:37,348,346...37,410,108
JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked treatment ISO RGD PMID:21966115 RGD:10449170 NCBI chr  X:74,409,483...74,428,880
Ensembl chr  X:74,409,483...74,429,194
JBrowse link
G Gsr glutathione reductase treatment ISO RGD PMID:24770475, PMID:24120393 RGD:10401874, RGD:10401896 NCBI chr 8:33,653,238...33,698,162
Ensembl chr 8:33,652,523...33,698,163
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO associated with Porphyria, Acute Intermittent (MeSH:D017118); protein:reduced activity:erythrocytes RGD PMID:2809566 RGD:2301684 NCBI chr 9:44,336,348...44,344,228
Ensembl chr 9:44,336,339...44,344,228
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-Coenzyme A reductase ISO
IEP
mRNA:decreased expression:liver (rat)
mRNA:increased expression:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:8593127, PMID:1611649, PMID:24619822, PMID:25168180, PMID:17250646 RGD:5508480, RGD:19165129, RGD:13782271, RGD:5508696 NCBI chr13:96,648,962...96,670,936
Ensembl chr13:96,648,967...96,670,936
JBrowse link
G Hnf4a hepatic nuclear factor 4, alpha resistance ISO Finnish and Mexican populations; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1B (2-1-1) RGD PMID:16804065 RGD:1601642 NCBI chr 2:163,506,811...163,572,907
Ensembl chr 2:163,506,808...163,572,910
JBrowse link
G Hp haptoglobin ISO protein:increased expression:plasma RGD PMID:16944942 RGD:1626342 NCBI chr 8:109,575,128...109,579,172
Ensembl chr 8:109,575,128...109,579,172
JBrowse link
G Hspd1 heat shock protein 1 (chaperonin) ISO RGD PMID:12921987 RGD:1624216 NCBI chr 1:55,077,833...55,088,243
Ensembl chr 1:55,077,835...55,088,243
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chr 9:21,015,940...21,028,814
Ensembl chr 9:21,015,985...21,028,817
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:17330503 RGD:1626623 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Itih4 inter alpha-trypsin inhibitor, heavy chain 4 susceptibility ISO ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to ClinVar PMID:14661079, PMID:14661079 RGD:1627650 NCBI chr14:30,886,476...30,901,986
Ensembl chr14:30,886,476...30,902,353
JBrowse link
G Ldlr low density lipoprotein receptor ISO
IEP
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 chr 9:21,723,576...21,749,919
Ensembl chr 9:21,723,483...21,749,919
JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO RGD PMID:15599766 RGD:1626107 NCBI chr 4:134,741,554...134,768,032
Ensembl chr 4:134,741,554...134,768,024
JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25086370, PMID:22948215 RGD:12904911 NCBI chr 6:29,060,221...29,073,876
Ensembl chr 6:29,060,220...29,073,877
JBrowse link
G Lipc lipase, hepatic ISO
IAGP
associated with Diabetes Mellitus; protein:decreased expression:plasma (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:liver (mouse)
protein, mRNA:decreased expression:plasma, liver (rat)
RGD PMID:6340423, PMID:11279518, PMID:7830494 RGD:2308850, RGD:2308841, RGD:2308793 NCBI chr 9:70,798,128...70,952,221
Ensembl chr 9:70,798,128...70,952,226
JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypercholesterolemia
CTD
ClinVar
PMID:1598907, PMID:21852083, PMID:30311386 NCBI chr 8:68,880,555...68,906,932
Ensembl chr 8:68,880,491...68,907,448
JBrowse link
G Lss lanosterol synthase IEP mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271 NCBI chr10:76,531,565...76,557,139
Ensembl chr10:76,531,588...76,557,138
JBrowse link
G Mif macrophage migration inhibitory factor (glycosylation-inhibiting factor) ISO mRNA:increased expression:glomerulus RGD PMID:9158105 RGD:1641957 NCBI chr10:75,859,353...75,860,277
Ensembl chr10:75,859,353...75,860,240
JBrowse link
G Mir223 microRNA 223 IMP RGD PMID:25246565 RGD:21408582 NCBI chr  X:96,242,817...96,242,926
Ensembl chr  X:96,242,817...96,242,926
JBrowse link
G Mvd mevalonate (diphospho) decarboxylase IEP mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271 NCBI chr 8:122,433,596...122,443,422
Ensembl chr 8:122,433,601...122,443,422
JBrowse link
G Mylk myosin, light polypeptide kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21052790 NCBI chr16:34,745,199...35,002,436
Ensembl chr16:34,745,210...35,002,420
JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14871415 NCBI chr 5:134,220,053...134,229,628
Ensembl chr 5:134,220,053...134,229,625
JBrowse link
G Nox1 NADPH oxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20832062 NCBI chr  X:134,086,421...134,137,711
Ensembl chr  X:134,086,421...134,221,956
JBrowse link
G Npc1l1 NPC1 like intracellular cholesterol transporter 1 IAGP RGD PMID:15671032 RGD:1642184 NCBI chr11:6,211,011...6,230,245
Ensembl chr11:6,211,013...6,230,143
JBrowse link
G Npy neuropeptide Y ISO associated with Obesity;DNA:missense mutation:cds:p.L7P (human) RGD PMID:11689216 RGD:1580177 NCBI chr 6:49,822,710...49,829,507
Ensembl chr 6:49,822,710...49,829,507
JBrowse link
G Nr4a3 nuclear receptor subfamily 4, group A, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16005304 NCBI chr 4:48,045,078...48,086,447
Ensembl chr 4:48,045,153...48,086,447
JBrowse link
G Pappa pregnancy-associated plasma protein A ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:15531533, PMID:14661010 RGD:1642328, RGD:1642329 NCBI chr 4:65,124,174...65,357,509
Ensembl chr 4:65,124,174...65,357,509
JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12730697 NCBI chr 4:106,442,334...106,464,325
Ensembl chr 4:106,442,329...106,464,329
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16229851 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Ppp1r17 protein phosphatase 1, regulatory subunit 17 ISO ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to ClinVar PMID:12955585 NCBI chr 6:56,017,497...56,032,689
Ensembl chr 6:56,017,497...56,032,689
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:28492532, PMID:30311386 NCBI chr13:63,508,328...63,573,460
Ensembl chr13:63,508,328...63,573,598
JBrowse link
G Scap SREBF chaperone ISO protein:increased expression:liver RGD PMID:16741953 RGD:1581819 NCBI chr 9:110,333,288...110,384,949
Ensembl chr 9:110,333,288...110,384,950
JBrowse link
G Scarb1 scavenger receptor class B, member 1 IMP RGD PMID:15967843 RGD:1580004 NCBI chr 5:125,277,087...125,341,094
Ensembl chr 5:125,277,087...125,341,094
JBrowse link
G Sdha succinate dehydrogenase complex, subunit A, flavoprotein (Fp) ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:24448499, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr13:74,322,255...74,350,240
Ensembl chr13:74,322,254...74,350,280
JBrowse link
G Sele selectin, endothelial cell ISO CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chr 1:164,039,614...164,058,487
Ensembl chr 1:164,048,234...164,057,677
JBrowse link
G Serpinf2 serine (or cysteine) peptidase inhibitor, clade F, member 2 ISO protein:decreased expression:serum RGD PMID:1384011 RGD:1625534 NCBI chr11:75,431,736...75,439,501
Ensembl chr11:75,431,732...75,439,591
JBrowse link
G Soat2 sterol O-acyltransferase 2 susceptibility IMP RGD PMID:11100118 RGD:1556516 NCBI chr15:102,150,415...102,163,469
Ensembl chr15:102,150,526...102,163,469
JBrowse link
G Sqle squalene epoxidase IEP mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271 NCBI chr15:59,315,092...59,331,193
Ensembl chr15:59,315,077...59,331,192
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO protein:altered localization:liver RGD PMID:16741953 RGD:1581819 NCBI chr11:60,199,084...60,224,186
Ensembl chr11:60,199,089...60,222,581
JBrowse link
G Srebf2 sterol regulatory element binding factor 2 ISO DNA:mutations:exon:p.V623M, p.R645Q (human)
DNA:polymorphism: :1784G>C (human)
protein:altered localization:liver
RGD PMID:11950857, PMID:15547298, PMID:18095312, PMID:16741953 RGD:1625197, RGD:1581415, RGD:2308813, RGD:1581819 NCBI chr15:82,147,269...82,205,379
Ensembl chr15:82,147,181...82,205,379
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chr 3:116,110,020...116,129,688
Ensembl chr 3:116,109,949...116,129,688
JBrowse link
G Vegfa vascular endothelial growth factor A ISO associated with Carcinoma, Ductal, Breast RGD PMID:15491965 RGD:8655598 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
G Vldlr very low density lipoprotein receptor IDA RGD PMID:8636110 RGD:1625573 NCBI chr19:27,216,480...27,254,231
Ensembl chr19:27,216,484...27,254,231
JBrowse link
Hypercholesterolemia, Autosomal Dominant, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 ClinVar PMID:25741868 NCBI chr12:7,977,629...8,016,839
Ensembl chr12:7,977,648...8,016,835
JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 3
ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3
ClinVar Annotator: match by OMIM:603776
OMIM
ClinVar
PMID:10357843, PMID:10764678, PMID:11668641, PMID:12175777, PMID:12730697, PMID:14727156, PMID:14727179, PMID:15099351, PMID:15166014, PMID:15358785, PMID:15654334, PMID:15772090, PMID:15893176, PMID:16183066, PMID:16211558, PMID:16224054, PMID:16424354, PMID:16465619, PMID:16554528, PMID:16571601, PMID:16777760, PMID:16909389, PMID:16912035, PMID:17094996, PMID:17140581, PMID:17170371, PMID:17316651, PMID:17461796, PMID:17502126, PMID:17765244, PMID:17804797, PMID:17971861, PMID:18028451, PMID:18197702, PMID:18250299, PMID:18262190, PMID:18266662, PMID:18300938, PMID:18354102, PMID:18436227, PMID:18559913, PMID:18631360, PMID:18710658, PMID:18718593, PMID:18799458, PMID:19001363, PMID:19022446, PMID:19081568, PMID:19191301, PMID:19351729, PMID:19797716, PMID:19917273, PMID:20006333, PMID:20031607, PMID:20172854, PMID:20538126, PMID:20579540, PMID:20959675, PMID:21146822, PMID:21943799, PMID:22095935, PMID:22344438, PMID:22417841, PMID:22683120, PMID:22875854, PMID:22923420, PMID:22995991, PMID:23064986, PMID:23105118, PMID:23375686, PMID:23386946, PMID:23535506, PMID:23663650, PMID:23680767, PMID:23743349, PMID:23935525, PMID:23997648, PMID:24033266, PMID:24115837, PMID:24278757, PMID:24507774, PMID:24507775, PMID:24607922, PMID:24785115, PMID:24793346, PMID:24808179, PMID:24859021, PMID:25014035, PMID:25046268, PMID:25278291, PMID:25412415, PMID:25525159, PMID:25600226, PMID:25741868, PMID:25744035, PMID:25904937, PMID:25962062, PMID:26020417, PMID:26036859, PMID:26049403, PMID:26195630, PMID:26332594, PMID:26374825, PMID:26467025, PMID:26541928, PMID:26546829, PMID:26632531, PMID:26636822, PMID:26802169, PMID:26937405, PMID:27050191, PMID:27135400, PMID:27206942, PMID:27218270, PMID:27280970, PMID:27516387, PMID:27765764, PMID:27896130, PMID:27919364, PMID:27998977, PMID:28008010, PMID:28179607, PMID:28302345, PMID:28323660, PMID:28349888, PMID:28360401, PMID:28438747, PMID:28492532, PMID:28587771, PMID:28768753, PMID:28777095, PMID:28965616, PMID:29083407, PMID:29127338, PMID:29259136, PMID:29261184, PMID:29438441, PMID:29459468, PMID:29593013, PMID:29982529, PMID:29997226, PMID:30779729, PMID:31106297, PMID:31386798 NCBI chr 4:106,442,334...106,464,325
Ensembl chr 4:106,442,329...106,464,329
JBrowse link
Hyperlipidemia, Combined, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usf1 upstream transcription factor 1 susceptibility ISO OMIM NCBI chr 1:171,411,307...171,418,954
Ensembl chr 1:171,411,313...171,419,142
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, sub-family A (ABC1), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895
JBrowse link
G Adrb2 adrenergic receptor, beta 2 ISO DNA:polymorphism: :p.Q27E RGD PMID:17020471 RGD:1601121 NCBI chr18:62,177,713...62,179,981
Ensembl chr18:62,177,816...62,179,959
JBrowse link
G Apoa1 apolipoprotein A-I ISO DNA:polymorphism:promoter:-75G>A (human) RGD PMID:9699897 RGD:1601186 NCBI chr 9:46,228,630...46,230,469
Ensembl chr 9:46,228,580...46,230,466
JBrowse link
G Apoa2 apolipoprotein A-II ISO CTD Direct Evidence: marker/mechanism CTD PMID:12522687 NCBI chr 1:171,221,564...171,226,379
Ensembl chr 1:171,225,054...171,226,379
JBrowse link
G Apoa4 apolipoprotein A-IV ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 9:46,240,844...46,243,458
Ensembl chr 9:46,240,696...46,243,459
JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B
ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:144010
ClinVar
CTD
OMIM
PMID:221546, PMID:1360085, PMID:1431583, PMID:1454832, PMID:1466657, PMID:1493642, PMID:1600334, PMID:1793440, PMID:1977310, PMID:2280177, PMID:2375782, PMID:2563166, PMID:3399894, PMID:3473077, PMID:3477815, PMID:3771801, PMID:7627691, PMID:7670940, PMID:7883971, PMID:8141833, PMID:8254047, PMID:8318509, PMID:8318993, PMID:8371062, PMID:8468533, PMID:8478017, PMID:8723684, PMID:8831935, PMID:8889592, PMID:8931699, PMID:8960785, PMID:9081691, PMID:9104431, PMID:9105560, PMID:9191540, PMID:9254062, PMID:9259199, PMID:9339363, PMID:9486979, PMID:9490296, PMID:9568749, PMID:9603795, PMID:9654205, PMID:9702952, PMID:9925662, PMID:10208479, PMID:10388479, PMID:10529757, PMID:10735632, PMID:10952765, PMID:11031227, PMID:11115503, PMID:11137107, PMID:11238294, PMID:11494965, PMID:11781700, PMID:11810272, PMID:11833852, PMID: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 chr12:7,977,629...8,016,839
Ensembl chr12:7,977,648...8,016,835
JBrowse link
G Apoc3 apolipoprotein C-III ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 9:46,233,050...46,235,636
Ensembl chr 9:46,232,933...46,235,636
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 7:19,696,244...19,701,310
Ensembl chr 7:19,696,109...19,699,188
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-Coenzyme A reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chr13:96,648,962...96,670,936
Ensembl chr13:96,648,967...96,670,936
JBrowse link
G Ldlr low density lipoprotein receptor ISO DNA:deletion: :p.G197del (human)
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia
ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B
ClinVar Annotator: match by term: Hyperlipoproteinemia Type II
ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1301940, PMID:1301956, PMID:1319734, PMID:1352322, PMID:1453433, PMID:1464748, PMID:1493640, PMID:1734910, PMID:1830890, PMID:1884514, PMID: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 chr 9:21,723,576...21,749,919
Ensembl chr 9:21,723,483...21,749,919
JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO RGD PMID:17380167 RGD:1626106 NCBI chr 4:134,741,554...134,768,032
Ensembl chr 4:134,741,554...134,768,024
JBrowse link
G Lipc lipase, hepatic ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 9:70,798,128...70,952,221
Ensembl chr 9:70,798,128...70,952,226
JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 8:68,880,555...68,906,932
Ensembl chr 8:68,880,491...68,907,448
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:16280123 RGD:1642031 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Mttp microsomal triglyceride transfer protein ISO RGD PMID:17215532 RGD:1625482 NCBI chr 3:138,089,855...138,143,418
Ensembl chr 3:138,089,854...138,144,968
JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 severity ISO DNA:missense mutations:cds:p.S127R, p.F216L (human)
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia
DNA:missense mutation:cds:p.D374Y (human)
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:12730697, PMID:14727179, PMID:15772090, PMID:17380167 RGD:1580998, RGD:1581002, RGD:1581001, RGD:1626106 NCBI chr 4:106,442,334...106,464,325
Ensembl chr 4:106,442,329...106,464,329
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523, PMID:16238680 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Pon2 paraoxonase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 6:5,264,620...5,298,345
Ensembl chr 6:5,264,147...5,298,455
JBrowse link
hyperlipoproteinemia type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A-V ISO CTD Direct Evidence: marker/mechanism CTD PMID:16143024 NCBI chr 9:46,268,608...46,271,921
Ensembl chr 9:46,268,633...46,271,919
JBrowse link
G Apoc3 apolipoprotein C-III ISO RGD PMID:2879788 RGD:1578447 NCBI chr 9:46,233,050...46,235,636
Ensembl chr 9:46,232,933...46,235,636
JBrowse link
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: APOE5 VARIANT
ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia
ClinVar Annotator: match by term: BROAD-BETALIPOPROTEINEMIA
DNA:missense mutation:cds:p.R158C (human)
DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human)
ClinVar Annotator: match by term: FAMILIAL HYPERCHOLESTEROLEMIA WITH HYPERLIPEMIA
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia, UMLS MESH term: Broad-beta Hyperlipoproteinemia
ClinVar
OMIM
CTD
PMID:1356443, PMID:1360898, PMID:1361196, PMID:1713245, PMID:2101409, PMID:2313204, PMID:2556398, PMID:2992507, PMID:3029073, PMID:3038959, PMID:3243553, PMID:3721502, PMID:3771793, PMID:6300187, PMID:6313758, PMID:6795720, PMID:7175379, PMID:7635945, PMID:9649566, PMID:12506591, PMID:15096402, PMID:16103896, PMID:16143024, PMID:17289397, PMID:19667110, PMID:20031551, PMID:20031582, PMID:22992668, PMID:25741868, PMID:28492532, PMID:15118671, PMID:7175379, PMID:199847 RGD:1331525, RGD:14401584, RGD:12880367 NCBI chr 7:19,696,244...19,701,310
Ensembl chr 7:19,696,109...19,699,188
JBrowse link
hyperlipoproteinemia type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A-V susceptibility ISO ClinVar Annotator: match by term: Familial hypertriglyceridemia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12915450, PMID:23151256, PMID:23307945, PMID:25741868 NCBI chr 9:46,268,608...46,271,921
Ensembl chr 9:46,268,633...46,271,919
JBrowse link
G Creb3l3 cAMP responsive element binding protein 3-like 3 ISO ClinVar Annotator: match by term: Familial hypertriglyceridemia ClinVar PMID:21666694 NCBI chr10:81,084,329...81,098,872
Ensembl chr10:81,084,324...81,098,874
JBrowse link
hyperlipoproteinemia type V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A-V ISO ClinVar Annotator: match by OMIM:144650 OMIM
ClinVar
PMID:16200213 NCBI chr 9:46,268,608...46,271,921
Ensembl chr 9:46,268,633...46,271,919
JBrowse link
Hyperlipoproteinemias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:45,974,110...46,030,491
Ensembl chr 7:45,967,555...46,030,302
JBrowse link
G Apoa4 apolipoprotein A-IV ISO protein:increased expression:blood plasma (human) RGD PMID:226830 RGD:5685673 NCBI chr 9:46,240,844...46,243,458
Ensembl chr 9:46,240,696...46,243,459
JBrowse link
G Apoa5 apolipoprotein A-V ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C, p.S19W (human) RGD PMID:18468520 RGD:2313317 NCBI chr 9:46,268,608...46,271,921
Ensembl chr 9:46,268,633...46,271,919
JBrowse link
G Apoc2 apolipoprotein C-II susceptibility ISO protein:increased expression:serum
DNA:missense mutation: :p.L72P (human)
RGD PMID:1468157, PMID:16153625 RGD:1601208, RGD:1601204 NCBI chr 7:19,671,579...19,677,941
Ensembl chr 7:19,671,579...19,677,941
JBrowse link
G Apoc3 apolipoprotein C-III ISO CTD Direct Evidence: marker/mechanism CTD PMID:2022742 NCBI chr 9:46,233,050...46,235,636
Ensembl chr 9:46,232,933...46,235,636
JBrowse link
G Apoh apolipoprotein H ISO RGD PMID:6613192 RGD:2313992 NCBI chr11:108,395,297...108,414,396
Ensembl chr11:108,343,354...108,414,396
JBrowse link
G Lipc lipase, hepatic ISO associated with Nephrosis; protein:decreased expression:plasma (rat)
CTD Direct Evidence: marker/mechanism
associated with Obesity and Diabetes; DNA:transition:promoter:-514C>T (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human)
CTD PMID:18160998, PMID:6480830, PMID:15941898, PMID:11427226 RGD:2308798, RGD:2308829, RGD:2308834 NCBI chr 9:70,798,128...70,952,221
Ensembl chr 9:70,798,128...70,952,226
JBrowse link
G Pon1 paraoxonase 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:15324535, PMID:15324535 RGD:8547684 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:10828087 NCBI chr15:85,734,910...85,806,851
Ensembl chr15:85,734,983...85,802,819
JBrowse link
G Serpinf2 serine (or cysteine) peptidase inhibitor, clade F, member 2 ISO RGD PMID:6121140 RGD:1625537 NCBI chr11:75,431,736...75,439,501
Ensembl chr11:75,431,732...75,439,591
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 chr12:84,009,502...84,017,670
Ensembl chr12:84,009,490...84,018,371
JBrowse link
G Acp1 acid phosphatase 1, soluble ISO associated with Obesity RGD PMID:12409270 RGD:1625288 NCBI chr12:30,893,326...30,911,619
Ensembl chr12:30,893,326...30,911,589
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with HIV Infections RGD PMID:21595566 RGD:8694463 NCBI chr16:23,146,536...23,157,968
Ensembl chr16:23,146,536...23,158,028
JBrowse link
G Adrb2 adrenergic receptor, beta 2 ISO GAD PMID:15118671 RGD:1331525 NCBI chr18:62,177,713...62,179,981
Ensembl chr18:62,177,816...62,179,959
JBrowse link
G Ahsg alpha-2-HS-glycoprotein ISO protein:increased expression:serum RGD PMID:19228823 RGD:2313809 NCBI chr16:22,892,015...22,899,451
Ensembl chr16:22,891,277...22,899,449
JBrowse link
G Angptl3 angiopoietin-like 3 IMP RGD PMID:12672813 RGD:1578347 NCBI chr 4:99,030,954...99,038,192
Ensembl chr 4:99,030,954...99,046,111
JBrowse link
G Angptl4 angiopoietin-like 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28842503 NCBI chr17:33,774,900...33,781,575
Ensembl chr17:33,773,750...33,781,830
JBrowse link
G Apoa1 apolipoprotein A-I no_association ISO DNA:polymorphism:promoter:-75G>A RGD PMID:7910586 RGD:1601187 NCBI chr 9:46,228,630...46,230,469
Ensembl chr 9:46,228,580...46,230,466
JBrowse link
G Apoa2 apolipoprotein A-II ISO DNA:polymorphism RGD PMID:9489233 RGD:1601190 NCBI chr 1:171,221,564...171,226,379
Ensembl chr 1:171,225,054...171,226,379
JBrowse link
G Apoa4 apolipoprotein A-IV ISO human gene in mouse model RGD PMID:2167514 RGD:5685672 NCBI chr 9:46,240,844...46,243,458
Ensembl chr 9:46,240,696...46,243,459
JBrowse link
G Apoa5 apolipoprotein A-V ISO ClinVar Annotator: match by term: Hypertriglyceridemia, susceptibility to
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C (human)
ClinVar
CTD
PMID:11588264, PMID:12417524, PMID:12417525, PMID:12915450, PMID:20657596, PMID:23151256, PMID:23307945, PMID:24387992, PMID:25741868, PMID:16238453, PMID:18468520, PMID:12818421 RGD:2313328, RGD:2313317, RGD:1578414 NCBI chr 9:46,268,608...46,271,921
Ensembl chr 9:46,268,633...46,271,919
JBrowse link
G Apob apolipoprotein B ISO protein:increased expression:plasma (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:20657596, PMID:8121310 RGD:11353966 NCBI chr12:7,977,629...8,016,839
Ensembl chr12:7,977,648...8,016,835
JBrowse link
G Apoc1 apolipoprotein C-I ISO protein:increased expression:plasma RGD PMID:3757210 RGD:2313953 NCBI chr 7:19,689,480...19,692,659
Ensembl chr 7:19,689,481...19,692,660
JBrowse link
G Apoc2 apolipoprotein C-II susceptibility ISO RGD PMID:3944267, PMID:7590197 RGD:1601214, RGD:1601205 NCBI chr 7:19,671,579...19,677,941
Ensembl chr 7:19,671,579...19,677,941
JBrowse link
G Apoc3 apolipoprotein C-III susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent or Coronary Disease;DNA:polymorphism RGD PMID:7705829, PMID:15715433 RGD:1578444, RGD:2306767 NCBI chr 9:46,233,050...46,235,636
Ensembl chr 9:46,232,933...46,235,636
JBrowse link
G Apoe apolipoprotein E susceptibility ISO associated with Metabolic Syndrome X; DNA:missense mutations:cds:p.C112R, p.R158C (human)
ClinVar Annotator: match by term: Hypertriglyceridemia
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 chr 7:19,696,244...19,701,310
Ensembl chr 7:19,696,109...19,699,188
JBrowse link
G Bche butyrylcholinesterase ISO associated with diabetes mellitus
CTD Direct Evidence: marker/mechanism
CTD PMID:23000450, PMID:8149699 RGD:1601335 NCBI chr 3:73,635,805...73,708,436
Ensembl chr 3:73,635,808...73,708,415
JBrowse link
G Cela2a chymotrypsin-like elastase family, member 2A ISO ClinVar Annotator: match by term: Hypertriglyceridemia ClinVar PMID:31358993 NCBI chr 4:141,814,954...141,826,005
Ensembl chr 4:141,814,962...141,826,160
JBrowse link
G Cftr cystic fibrosis transmembrane conductance regulator ISO associated with Pancreatitis;DNA:missense mutation, haplotype: :p.I556V (human) RGD PMID:17981921 RGD:11566035 NCBI chr 6:18,170,687...18,322,770
Ensembl chr 6:18,170,687...18,322,768
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO CTD Direct Evidence: therapeutic CTD PMID:11893366 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 treatment IMP RGD PMID:18183944 RGD:10401058 NCBI chr15:76,502,012...76,512,021
Ensembl chr15:76,502,015...76,511,953
JBrowse link
G F7 coagulation factor VII ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) RGD PMID:19329212 RGD:2312379 NCBI chr 8:13,025,506...13,035,809
Ensembl chr 8:13,026,034...13,035,809
JBrowse link
G Fabp2 fatty acid binding protein 2, intestinal ISO associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.A54T (human) RGD PMID:16919542, PMID:10999802 RGD:1626401, RGD:1300313 NCBI chr 3:122,895,072...122,899,506
Ensembl chr 3:122,895,072...122,899,506
JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked treatment ISO RGD PMID:22947172 RGD:10449176 NCBI chr  X:74,409,483...74,428,880
Ensembl chr  X:74,409,483...74,429,194
JBrowse link
G Gckr glucokinase regulatory protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertriglyceridemia
CTD
ClinVar
PMID:20657596, PMID:22182842, PMID:25741868 NCBI chr 5:31,297,266...31,327,302
Ensembl chr 5:31,297,443...31,327,314
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO RGD PMID:11118009 RGD:1625423 NCBI chr 6:87,042,846...87,092,207
Ensembl chr 6:87,042,846...87,092,197
JBrowse link
G Hnf4a hepatic nuclear factor 4, alpha ISO RGD PMID:16804065 RGD:1601642 NCBI chr 2:163,506,811...163,572,907
Ensembl chr 2:163,506,808...163,572,910
JBrowse link
G Ifna interferon alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:15304625
G Il6st interleukin 6 signal transducer ISO RGD PMID:8843746 RGD:1626687 NCBI chr13:112,464,070...112,506,860
Ensembl chr13:112,464,070...112,510,086
JBrowse link
G Ins2 insulin II ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr 7:142,678,656...142,679,726
Ensembl chr 7:142,678,656...142,743,381
JBrowse link
G Insig1 insulin induced gene 1 severity IMP associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chr 5:28,071,412...28,078,662
Ensembl chr 5:28,071,363...28,078,662
JBrowse link
G Insig2 insulin induced gene 2 severity IMP associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chr 1:121,304,353...121,332,662
Ensembl chr 1:121,304,353...121,332,589
JBrowse link
G Lcat lecithin cholesterol acyltransferase IAGP RGD PMID:14668345 RGD:1581782 NCBI chr 8:105,939,551...105,943,402
Ensembl chr 8:105,939,551...105,943,382
JBrowse link
G Ldlr low density lipoprotein receptor ISO RGD PMID:28469073, PMID:27378433 RGD:12910100, RGD:12910104 NCBI chr 9:21,723,576...21,749,919
Ensembl chr 9:21,723,483...21,749,919
JBrowse link
G Lep leptin ISO RGD PMID:22948215 RGD:12904911 NCBI chr 6:29,060,221...29,073,876
Ensembl chr 6:29,060,220...29,073,877
JBrowse link
G Lipc lipase, hepatic ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human) RGD PMID:187516 RGD:2308846 NCBI chr 9:70,798,128...70,952,221
Ensembl chr 9:70,798,128...70,952,226
JBrowse link
G Lipe lipase, hormone sensitive ISO RGD PMID:11016888 RGD:2313581 NCBI chr 7:25,379,527...25,398,486
Ensembl chr 7:25,379,527...25,398,710
JBrowse link
G Lipi lipase, member I susceptibility ISO ClinVar Annotator: match by term: Hypertriglyceridemia, susceptibility to
DNA:polymorphism: :p.C55Y
ClinVar
RGD
PMID:12719377 RGD:1625450 NCBI chr16:75,540,514...75,586,072
Ensembl chr16:75,540,514...75,586,061
JBrowse link
G Lmf1 lipase maturation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17994020 NCBI chr17:25,579,174...25,662,831
Ensembl chr17:25,579,085...25,662,826
JBrowse link
G Lpl lipoprotein lipase susceptibility ISO ClinVar Annotator: match by term: Hypertriglyceridemia
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar
CTD
PMID:8147947, PMID:20657596, PMID:25741868, PMID:11016888, PMID:17848837, PMID:16431216 RGD:2313581, RGD:2313305, RGD:1580533 NCBI chr 8:68,880,555...68,906,932
Ensembl chr 8:68,880,491...68,907,448
JBrowse link
G Lta lymphotoxin A susceptibility
no_association
ISO associated with Diabetes Mellitus, Non-Insulin-Dependent
DNA:polymorphism
RGD PMID:7783649, PMID:9245742 RGD:1625036, RGD:1625035 NCBI chr17:35,203,165...35,205,578
Ensembl chr17:35,203,165...35,205,351
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO associated with Insulin Resistance RGD PMID:20566415 RGD:10040984 NCBI chr 4:148,448,582...148,557,685
Ensembl chr 4:148,448,611...148,557,683
JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 ISO associated with obesity RGD PMID:20729114 RGD:13801195 NCBI chr 4:40,270,591...40,279,421
Ensembl chr 4:40,270,591...40,279,421
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO protein:decreased expression:aorta RGD PMID:17824809 RGD:2292131 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Pde5a phosphodiesterase 5A, cGMP-specific ISO RGD PMID:18787522 RGD:2314464 NCBI chr 3:122,729,158...122,859,374
Ensembl chr 3:122,728,947...122,859,374
JBrowse link
G Plin2 perilipin 2 IDA associated with Obesity RGD PMID:17484887 RGD:1625752 NCBI chr 4:86,626,910...86,670,217
Ensembl chr 4:86,648,386...86,670,060
JBrowse link
G Pltp phospholipid transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr 2:164,839,518...164,857,708
Ensembl chr 2:164,839,518...164,857,711
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chr15:85,734,910...85,806,851
Ensembl chr15:85,734,983...85,802,819
JBrowse link
G Rp1 retinitis pigmentosa 1 (human) ISO ClinVar Annotator: match by term: Hypertriglyceridemia, susceptibility to ClinVar PMID:12764676, PMID:20664799, PMID:25741868 NCBI chr 1:4,115,673...4,409,266
Ensembl chr 1:3,999,557...4,409,241
JBrowse link
G Rps12 ribosomal protein S12 ISO associated with Metabolic Syndrome X;mRNA:increased expression:liver RGD PMID:25294893 RGD:11039460 NCBI chr10:23,785,183...23,787,383
Ensembl chr10:23,785,183...23,787,275
JBrowse link
G Serpinf2 serine (or cysteine) peptidase inhibitor, clade F, member 2 ISO protein:increased expression:plasma RGD PMID:9207984 RGD:1625533 NCBI chr11:75,431,736...75,439,501
Ensembl chr11:75,431,732...75,439,591
JBrowse link
G Socs1 suppressor of cytokine signaling 1 IMP associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr16:10,783,808...10,785,536
Ensembl chr16:10,782,240...10,785,536
JBrowse link
G Socs3 suppressor of cytokine signaling 3 IMP associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr11:117,966,079...117,970,336
Ensembl chr11:117,966,079...117,970,047
JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO DNA:SNP:intron:g.59080C>T (rs11070811) (human) RGD PMID:21439949 RGD:7175561 NCBI chr 7:64,153,835...64,269,772
Ensembl chr 7:64,153,835...64,269,775
JBrowse link
G Txnip thioredoxin interacting protein susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:3' utr RGD PMID:17381501 RGD:1642750 NCBI chr 3:96,557,957...96,561,857
Ensembl chr 3:96,557,957...96,561,883
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 chr19:27,216,480...27,254,231
Ensembl chr19:27,216,484...27,254,231
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 (soluble) ISO ClinVar Annotator: match by term: Hypertriglyceridemia, transient infantile
ClinVar Annotator: match by OMIM:614480
OMIM
ClinVar
PMID:24549054, PMID:25741868 NCBI chr15:99,717,587...99,725,014
Ensembl chr15:99,717,515...99,725,005
JBrowse link
Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Ti tRNA isoleucine, mitochondrial ISO ClinVar Annotator: match by term: Hypertension, hypercholesterolemia, and hypomagnesemia, mitochondrial ClinVar PMID:15498972 NCBI chr MT:3,706...3,774
Ensembl chr MT:3,706...3,774
JBrowse link
sitosterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Sitosterolemia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:210250
ClinVar
CTD
PMID:11099417, PMID:11138003, PMID:11907139, PMID:15375183, PMID:17228349, PMID:17976197, PMID:19111681, PMID:20521169, PMID:20543520, PMID:20719861, PMID:21729603, PMID:24033266, PMID:24166850, PMID:24423340, PMID:25665839, PMID:25741868, PMID:26813946, PMID:27291889, PMID:28203044, PMID:28492532, PMID:28521186, PMID:28771437, PMID:29353225, PMID:29886606, PMID:30985648, PMID:31060161, PMID:31064749, PMID:11452359 RGD:631968 NCBI chr17:84,658,174...84,683,011
Ensembl chr17:84,658,234...84,683,011
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO
IEA
ClinVar Annotator: match by term: Sitosterolemia
OMIM:210250
ClinVar Annotator: match by OMIM:210250
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
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 chr17:84,676,302...84,700,333
Ensembl chr17:84,676,302...84,700,333
JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Sitosterolemia ClinVar PMID:11138003, PMID:11907139, PMID:15375183, PMID:17228349, PMID:17976197, PMID:19111681, PMID:20521169, PMID:20543520, PMID:20719861, PMID:21729603, PMID:24033266, PMID:24166850, PMID:24423340, PMID:25665839, PMID:25741868, PMID:26813946, PMID:28203044, PMID:28492532, PMID:28521186, PMID:28771437, PMID:29353225, PMID:29886606, PMID:30985648, PMID:31060161 NCBI chr17:84,626,475...84,655,568
Ensembl chr17:84,626,496...84,655,588
JBrowse link
Sitosterolemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Sitosterolemia 1 ClinVar PMID:11668628, PMID:24503134, PMID:25741868, PMID:27291889, PMID:28492532, PMID:31064749 NCBI chr17:84,658,174...84,683,011
Ensembl chr17:84,658,234...84,683,011
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Sitosterolemia 1 OMIM
ClinVar
PMID:3706300, PMID:4360855, PMID:6110091, PMID:11099417, PMID:11264985, PMID:11452359, PMID:11893785, PMID:12124998, PMID:15054092, PMID:15816807, PMID:15996216, PMID:16029460, PMID:17632509, PMID:20854103, PMID:21039838, PMID:21274884, PMID:22898925, PMID:22981120, PMID:23241408, PMID:24657386, PMID:25073796, PMID:25110228, PMID:25741868, PMID:27291889, PMID:28492532, PMID:28521186, PMID:31064749 NCBI chr17:84,676,302...84,700,333
Ensembl chr17:84,676,302...84,700,333
JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Sitosterolemia 1 ClinVar PMID:11668628, PMID:24503134, PMID:25741868, PMID:28492532, PMID:31064749 NCBI chr17:84,626,475...84,655,568
Ensembl chr17:84,626,496...84,655,588
JBrowse link
Sitosterolemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: SITOSTEROLEMIA 2 ClinVar
OMIM
PMID:11099417, PMID:11138003, PMID:11907139, PMID:15375183, PMID:16029460, PMID:17228349, PMID:17976197, PMID:19111681, PMID:20521169, PMID:20543520, PMID:20719861, PMID:21729603, PMID:24033266, PMID:24166850, PMID:24423340, PMID:25665839, PMID:25741868, PMID:26813946, PMID:28203044, PMID:28492532, PMID:28521186, PMID:28771437, PMID:29353225, PMID:29886606, PMID:30985648, PMID:31060161 NCBI chr17:84,658,174...84,683,011
Ensembl chr17:84,658,234...84,683,011
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: SITOSTEROLEMIA 2 ClinVar PMID:16029460, PMID:20719861 NCBI chr17:84,676,302...84,700,333
Ensembl chr17:84,676,302...84,700,333
JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: SITOSTEROLEMIA 2 ClinVar PMID:11099417, PMID:11138003, PMID:11907139, PMID:15375183, PMID:17228349, PMID:17976197, PMID:19111681, PMID:20521169, PMID:20543520, PMID:20719861, PMID:21729603, PMID:24033266, PMID:24166850, PMID:24423340, PMID:25665839, PMID:25741868, PMID:26813946, PMID:28203044, PMID:28492532, PMID:28521186, PMID:28771437, PMID:29353225, PMID:29886606, PMID:30985648, PMID:31060161 NCBI chr17:84,626,475...84,655,568
Ensembl chr17:84,626,496...84,655,588
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13447
    Nutritional and Metabolic Diseases 3933
      disease of metabolism 3933
        lipid metabolism disorder 790
          familial hyperlipidemia 171
            Hypercholesterolemia + 83
            Hyperlipoproteinemias + 34
            Hypertriglyceridemia + 58
            familial chylomicronemia syndrome + 5
            familial combined hyperlipidemia + 14
            familial hypercholesterolemia + 15
            glycogen storage disease IX + 4
            hyperlipoproteinemia type V 1
Path 2
Term Annotations click to browse term
  disease 13447
    Developmental Diseases 9444
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8240
        genetic disease 7771
          inherited metabolic disorder 2141
            lipid metabolism disorder 790
              Dyslipidemias 193
                familial hyperlipidemia 171
                  Hypercholesterolemia + 83
                  Hyperlipoproteinemias + 34
                  Hypertriglyceridemia + 58
                  familial chylomicronemia syndrome + 5
                  familial combined hyperlipidemia + 14
                  familial hypercholesterolemia + 15
                  glycogen storage disease IX + 4
                  hyperlipoproteinemia type V 1
paths to the root

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