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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;   Hyperlipidemia;   Lipemia;   Lipemias;   Lipidemia;   familial hyperlipoproteinemia;   hyperlipemias;   lipidemias
 related_synonym: hyperlipidaemia
 primary_id: MESH:D006949
 xref: EFO:0003774;   ICD10CM:E78.5;   MONDO:0001336;   MONDO:0021187;   NCI:C34707;   NCI:C34709
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
familial hyperlipidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 treatment ISO RGD PMID:17026988 PMID:23185768 RGD:1598533 RGD:21408557 NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492 		JBrowse link
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 susceptibility ISO DNA:SNP::2677G>T/A(rs2032582)(human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:24502637 PMID:26922556 RGD:11574565 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 susceptibility ISO sitosterolemia;DNA:missense mutation, nonsense mutation: :p.G574A, 1083G>A RGD PMID:12671028 RGD:1601097 NCBI chr 3:96,596,975...96,616,224
Ensembl chr 3:96,596,531...96,616,229 		JBrowse link
G ADA adenosine deaminase treatment ISO RGD PMID:30679022 RGD:152998957 NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing treatment ISO RGD PMID:24308182 RGD:8695929 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646 		JBrowse link
G ADRB2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16027735 NCBI chr 2:150,032,649...150,035,591
Ensembl chr 2:150,033,579...150,040,731 		JBrowse link
G ADRB3 adrenoceptor beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16027735 NCBI chr15:48,468,803...48,478,370
Ensembl chr15:48,475,144...48,479,562 		JBrowse link
G ALB albumin ISO DNA:mutation RGD PMID:6468510 RGD:1601160 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696 		JBrowse link
G ANGPTL4 angiopoietin like 4 ISO RGD PMID:12401877 PMID:15837923 RGD:1578349 RGD:1625354 NCBI chr 2:70,905,767...70,912,892
Ensembl chr 2:70,904,531...70,912,974 		JBrowse link
G APC APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:17546600 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887 		JBrowse link
G APOB apolipoprotein B treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:7627691 PMID:15716585 PMID:17658632 RGD:14401726 RGD:1578419 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200 		JBrowse link
G APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO RGD PMID:11116209 RGD:1626277 NCBI chr 5:62,811,819...62,820,532
Ensembl chr 5:62,810,879...62,820,173 		JBrowse link
G APOC2 apolipoprotein C2 susceptibility ISO RGD PMID:1782747 RGD:1599175 NCBI chr 6:51,404,219...51,406,302 JBrowse link
G APOC3 apolipoprotein C3 treatment ISO RGD PMID:23542898 RGD:10054091 NCBI chr 9:44,211,171...44,213,538
Ensembl chr 9:44,211,194...44,213,533 		JBrowse link
G APOE apolipoprotein E treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:11947894 PMID:12871831 PMID:20530721 PMID:20937366 PMID:22762542 More... RGD:13703129 RGD:150521536 RGD:6903856 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
G BCHE butyrylcholinesterase ISO protein:increased expression:serum RGD PMID:15219807 RGD:1601321 NCBI chr13:104,946,732...105,007,568 JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 treatment ISO RGD PMID:19525846 RGD:11528561 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:21485068 RGD:5490594 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		JBrowse link
G CRP C-reactive protein, pentraxin-related ISO protein:increased expression:serum: RGD PMID:24308182 RGD:8695929 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218 		JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO RGD PMID:23002367 RGD:14700877 NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817 		JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:plasma RGD PMID:8914465 RGD:11060253 NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,644...122,837,666 		JBrowse link
G F7 coagulation factor VII ISO protein:increased expression:plasma (rat) RGD PMID:11776312 RGD:2312300 NCBI chr11:78,512,389...78,518,668
Ensembl chr11:78,512,137...78,518,668 		JBrowse link
G GCG glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:69995 NCBI chr15:68,800,557...68,810,268
Ensembl chr15:68,800,560...68,810,242 		JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO mRNA:increased expression:gastrocnemius RGD PMID:16555472 RGD:1624365 NCBI chr 3:73,028,750...73,086,191
Ensembl chr 3:73,028,804...73,085,319 		JBrowse link
G GNB3 G protein subunit beta 3 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :825C>T (human) RGD PMID:17161225 RGD:2313205 NCBI chr 5:63,863,656...63,871,352
Ensembl chr 5:63,863,661...63,870,433 		JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO mRNA,protein:increased expression:islet cells:diabetic but not prediabetic Zucker Diabetic Fatty (fa/fa) rats RGD PMID:14697232 RGD:1625074 NCBI chr 9:133,231,451...133,278,396
Ensembl chr 9:133,231,451...133,278,396 		JBrowse link
G IRF9 interferon regulatory factor 9 ISO associated with acute pancreatitis;protein:increased expression:kidney RGD PMID:32462510 RGD:125093744 NCBI chr 7:75,133,800...75,139,641
Ensembl chr 7:75,126,622...75,139,640 		JBrowse link
G IRS1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10591678 NCBI chr15:128,245,846...128,307,321
Ensembl chr15:128,245,846...128,307,284 		JBrowse link
G ITGAM integrin subunit alpha M exacerbates ISO protein:increased expression:granulocyte (human)
protein:increased expression:monocyte, macrophage (human)		 RGD PMID:17869258 PMID:18788855 RGD:329901821 RGD:329901839 NCBI chr 3:17,216,719...17,272,134
Ensembl chr 3:17,204,610...17,273,613 		JBrowse link
G KL klotho ISO RGD PMID:10892340 RGD:1581732 NCBI chr11:9,427,236...9,479,251
Ensembl chr11:9,427,037...9,479,228 		JBrowse link
G LCAT lecithin-cholesterol acyltransferase ISO RGD PMID:12935429 RGD:1581787 NCBI chr 6:28,550,356...28,553,561
Ensembl chr 6:28,550,358...28,553,566 		JBrowse link
G LDLR low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:11947894 PMID:25619500 PMID:29459263 RGD:13703129 NCBI chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,827 		JBrowse link
G LEP leptin ISO mRNA:decreased expression:liver, adipose tissue (rat) RGD PMID:17671736 RGD:10053616 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323 		JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25222487 PMID:33345901 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995 		JBrowse link
G LIPC lipase C, hepatic type ISO protein:reduced expression:plasma (rat)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:1883393 PMID:12935429 RGD:1581787 NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,687...113,583,963 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20199424 NCBI chr 1:267,207,273...267,290,862
Ensembl chr 1:267,207,419...267,287,729 		JBrowse link
G LPL lipoprotein lipase treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:9920508 PMID:17658632 PMID:29931882 RGD:13794383 RGD:1556571 NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814 		JBrowse link
G MIR125A microRNA mir-125a ISO RGD PMID:31988048 RGD:21403676 NCBI chr 6:58,331,566...58,331,645
Ensembl chr 6:58,331,566...58,331,645 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO associated with Diabetes Mellitus, Type 2 RGD PMID:16490430 RGD:1642030 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G MTTP microsomal triglyceride transfer protein ISO RGD PMID:12191589 RGD:1625489 NCBI chr 8:120,820,660...120,871,468
Ensembl chr 8:120,820,656...120,879,388 		JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21285402 NCBI chr 7:58,261,761...58,269,001
Ensembl chr 7:58,261,769...58,268,522 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism
protein:increased phosphorylation:aorta		 CTD
RGD		 PMID:11457755 PMID:17895290 RGD:2292129 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		JBrowse link
G PLAU plasminogen activator, urokinase ISO associated with Venous Thrombosis; protein:increased expression:wall of vein, thrombus (mouse) RGD PMID:22119245 RGD:6903200 NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172 		JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: therapeutic CTD PMID:21640707 NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,741...3,364,239 		JBrowse link
G PPARGC1B PPARG coactivator 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17932310 NCBI chr 2:150,823,338...150,924,871
Ensembl chr 2:150,823,373...150,919,376 		JBrowse link
G PPBP pro-platelet basic protein ISO associated with menopause; mRNA,protein:increased expression:peripheral blood mononuclear cell ,plasma RGD PMID:35734636 RGD:401794436 NCBI chr 8:70,021,468...70,022,490
Ensembl chr 8:70,021,439...70,023,964 		JBrowse link
G PRMT7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Hyperlipidemia ClinVar PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392 NCBI chr 6:28,883,148...28,945,904
Ensembl chr 6:28,883,646...28,945,905 		JBrowse link
G RGN regucalcin ISO RGD PMID:15375596 RGD:9590273 NCBI chr  X:41,725,660...41,749,736
Ensembl chr  X:41,726,526...41,749,381 		JBrowse link
G SDC1 syndecan 1 ISO RGD PMID:17403197 RGD:1643125 NCBI chr 3:117,987,585...118,011,886
Ensembl chr 3:117,987,557...118,011,884 		JBrowse link
G SERPINC1 serpin family C member 1 ISO protein:increased expression:plasma RGD PMID:17283885 RGD:11035268 NCBI chr 9:116,181,988...116,193,100
Ensembl chr 9:116,181,670...116,193,201 		JBrowse link
G SERPINF2 serpin family F member 2 ISO RGD PMID:2313941 RGD:1625536 NCBI chr12:47,934,551...47,942,283
Ensembl chr12:47,933,864...47,942,285 		JBrowse link
G SHC1 SHC adaptor protein 1 ISO RGD PMID:15044008 RGD:1643177 NCBI chr 4:94,818,226...94,831,766
Ensembl chr 4:94,810,875...94,831,765 		JBrowse link
G SLC27A1 solute carrier family 27 member 1 ISO protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle RGD PMID:15281014 RGD:1642794 NCBI chr 2:60,203,374...60,235,689
Ensembl chr 2:60,203,388...60,235,588 		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 chr 5:15,992,348...16,005,778
Ensembl chr 5:15,992,260...16,005,778 		JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO DNA:Missense mutations, haplotype:CDS:multiple (mouse) RGD PMID:22022387 RGD:126925202 NCBI chr 9:121,045,211...121,112,393
Ensembl chr 9:121,045,234...121,113,692 		JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 treatment ISO RGD PMID:29197188 RGD:401842366 NCBI chr12:60,733,967...60,750,951
Ensembl chr12:60,733,907...60,751,267 		JBrowse link
G TFPI tissue factor pathway inhibitor ISO protein:increased expression:plasma: RGD PMID:8914465 RGD:11060253 NCBI chr15:92,345,083...92,409,962
Ensembl chr15:92,345,075...92,409,905 		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:16834981 PMID:19001732 RGD:1601559 RGD:2306735 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO RGD PMID:18159007 RGD:2313110 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,920...117,511,222 		JBrowse link
G VLDLR very low density lipoprotein receptor ISO RGD PMID:10985956 RGD:1625570 NCBI chr 1:219,178,501...219,210,332
Ensembl chr 1:219,173,507...219,210,343 		JBrowse link
apolipoprotein C-III deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOC3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Apolipoprotein c-III deficiency | ClinVar Annotator: match by term: Hyperalphalipoproteinemia 2 OMIM
ClinVar		 PMID:2022742 PMID:11060345 PMID:19074352 PMID:20097930 PMID:23701270 More... NCBI chr 9:44,211,171...44,213,538
Ensembl chr 9:44,211,194...44,213,533 		JBrowse link
autosomal recessive hypercholesterolemia 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: Homozygous familial hypercholesterolemia ClinVar PMID:174884 PMID:1360085 PMID:1466657 PMID:1493642 PMID:1600334 More... NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200 		JBrowse link
G AUNIP aurora kinase A and ninein interacting protein ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,276,977...83,316,642
Ensembl chr 6:83,272,788...83,316,418 		JBrowse link
G CATSPER4 cation channel sperm associated 4 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,607,607...83,627,860
Ensembl chr 6:83,609,349...83,627,855 		JBrowse link
G CD52 CD52 molecule ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,723,762...83,725,619
Ensembl chr 6:83,723,756...83,726,912 		JBrowse link
G CEP85 centrosomal protein 85 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,651,011...83,689,074
Ensembl chr 6:83,651,017...83,686,441 		JBrowse link
G CNKSR1 connector enhancer of kinase suppressor of Ras 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,598,363...83,608,617
Ensembl chr 6:83,598,372...83,608,607 		JBrowse link
G CRYBG2 crystallin beta-gamma domain containing 2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,726,964...83,757,461
Ensembl chr 6:83,726,964...83,757,527 		JBrowse link
G DHDDS dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,823,262...83,855,101
Ensembl chr 6:83,823,229...83,857,092 		JBrowse link
G EXTL1 exostosin like glycosyltransferase 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,461,421...83,476,601
Ensembl chr 6:83,462,323...83,476,596 		JBrowse link
G FAM110D family with sequence similarity 110 member D ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,581,341...83,584,444
Ensembl chr 6:83,581,362...83,584,444 		JBrowse link
G LDLR low density lipoprotein receptor ISO ClinVar Annotator: match by term: Familial hypercholesterolemia - homozygous | ClinVar Annotator: match by term: Homozygous familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:322919 PMID:484703 PMID:1000167 PMID:1057090 PMID:1301940 More... NCBI chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,827 		JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2 | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal recessive | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar Annotator: match by term: Familial hypercholesterolemia - homozygous | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2 | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal recessive | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4		 OMIM
ClinVar		 PMID:4351242 PMID:7628519 PMID:9536098 PMID:11326085 PMID:11897284 More... NCBI chr 6:83,030,629...83,054,387
Ensembl chr 6:83,030,702...83,054,377 		JBrowse link
G LIN28A lin-28 homolog A ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,806,178...83,818,550
Ensembl chr 6:83,806,056...83,818,633 		JBrowse link
G MAN1C1 mannosidase alpha class 1C member 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,089,942...83,228,648
Ensembl chr 6:83,089,072...83,228,008 		JBrowse link
G MTFR1L mitochondrial fission regulator 1 like ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,265,351...83,277,774
Ensembl chr 6:83,265,420...83,280,250 		JBrowse link
G PAFAH2 platelet activating factor acetylhydrolase 2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,413,513...83,446,967
Ensembl chr 6:83,411,553...83,446,834 		JBrowse link
G PAQR7 progestin and adipoQ receptor family member 7 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,318,408...83,329,567
Ensembl chr 6:83,318,411...83,329,639 		JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Homozygous familial hypercholesterolemia ClinVar PMID:10357843 PMID:10764678 PMID:14727179 PMID:15099351 PMID:15358785 More... NCBI chr 6:157,388,370...157,409,620
Ensembl chr 6:157,388,372...157,409,551 		JBrowse link
G PDIK1L PDLIM1 interacting kinase 1 like ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,542,734...83,561,244
Ensembl chr 6:83,543,780...83,554,864 		JBrowse link
G SELENON selenoprotein N ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,246,934...83,262,748
Ensembl chr 6:83,246,934...83,262,743 		JBrowse link
G SH3BGRL3 SH3 domain binding glutamate rich protein like 3 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,687,473...83,689,076
Ensembl chr 6:83,687,604...83,689,565 		JBrowse link
G SLC30A2 solute carrier family 30 member 2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,478,761...83,484,876
Ensembl chr 6:83,477,759...83,484,688 		JBrowse link
G STMN1 stathmin 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,356,404...83,362,546
Ensembl chr 6:83,356,412...83,362,500 		JBrowse link
G TRIM63 tripartite motif containing 63 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,493,200...83,507,471
Ensembl chr 6:83,492,633...83,507,502 		JBrowse link
G UBXN11 UBX domain protein 11 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,688,709...83,714,516
Ensembl chr 6:83,686,391...83,714,439 		JBrowse link
G ZNF593 zinc finger protein 593 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,590,840...83,593,284
Ensembl chr 6:83,590,895...83,593,278 		JBrowse link
G ZNF683 zinc finger protein 683 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,756,865...83,765,905
Ensembl chr 6:83,758,979...83,765,855 		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 Annotator: match by term: Broad-betalipoproteinemia ClinVar PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 More... NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
familial apolipoprotein A5 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA5 apolipoprotein A5 ISO OMIM NCBI chr 9:44,177,834...44,180,880
Ensembl chr 9:44,178,606...44,180,885 		JBrowse link
familial apolipoprotein C-II deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOC2 apolipoprotein C2 ISO ClinVar Annotator: match by term: Familial apolipoprotein C-II deficiency OMIM
ClinVar		 PMID:213719 PMID:1349286 PMID:1569385 PMID:1628605 PMID:1782747 More... NCBI chr 6:51,404,219...51,406,302 JBrowse link
familial combined hyperlipidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADD1 adducin 1 ISO DNA:polymorphism: :p.Gly460Trp (human) RGD PMID:11775124 RGD:1559299 NCBI chr 8:1,627,146...1,710,653
Ensembl chr 8:1,627,062...1,710,650 		JBrowse link
G ALPL alkaline phosphatase, biomineralization associated ISO RGD PMID:16336518 RGD:1601173 NCBI chr 6:79,589,695...79,649,646
Ensembl chr 6:79,589,045...79,649,644 		JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:105,868,834...105,892,171
Ensembl chr 4:105,868,897...105,893,769 		JBrowse link
G APOA2 apolipoprotein A2 ISO protein:increased expression:plasma: RGD PMID:12738753 RGD:1300287 NCBI chr 4:89,237,514...89,239,126
Ensembl chr 4:89,237,511...89,240,319 		JBrowse link
G APOB apolipoprotein B ISO ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb
ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb		 ClinVar PMID:174884 PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 More... NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200 		JBrowse link
G APOC3 apolipoprotein C3 no_association ISO DNA:haplotype, snp:3' utr:g.3175G>C (human) RGD PMID:9062353 PMID:9812922 PMID:15863838 RGD:1601225 RGD:5685674 RGD:5685676 NCBI chr 9:44,211,171...44,213,538
Ensembl chr 9:44,211,194...44,213,533 		JBrowse link
G APOE apolipoprotein E ISO DNA:missense mutations, haplotype:cds:p.C112R, p.R158C (human) RGD PMID:12915220 PMID:17127808 RGD:1578481 RGD:1601231 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
G FASLG Fas ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:15063428 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464 		JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha ISO DNA:haplotype: :rs6031558,rs745975, rs3212198(human) RGD PMID:18340007 RGD:12904697 NCBI chr17:46,783,772...46,847,505
Ensembl chr17:46,783,777...46,847,500 		JBrowse link
G LDLR low density lipoprotein receptor ISO ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb ClinVar PMID:7616128 PMID:7709162 PMID:9039985 PMID:9259195 PMID:9654205 More... NCBI chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,827 		JBrowse link
G LIPC lipase C, hepatic type ISO RGD PMID:16338252 RGD:1580512 NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,687...113,583,963 		JBrowse link
G LPL lipoprotein lipase ISO ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb OMIM
ClinVar		 PMID:1351946 PMID:1371284 PMID:1400331 PMID:1479292 PMID:1505655 More... NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814 		JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:plasma: RGD PMID:18417194 RGD:13207412 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547 		JBrowse link
G THBD thrombomodulin ISO RGD PMID:15262191 RGD:1601645 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,217,303...30,224,099 		JBrowse link
G USF1 upstream transcription factor 1 ISO ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to ClinVar PMID:14991056 PMID:16076849 NCBI chr 4:89,395,133...89,401,048
Ensembl chr 4:89,395,482...89,401,047 		JBrowse link
G VWF von Willebrand factor ISO protein:increased expression:plasma: RGD PMID:18417194 RGD:13207412 NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,519,186...65,002,452 		JBrowse link
familial GPIHBP1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ISO ClinVar Annotator: match by term: Hyperlipoproteinemia, type 1D OMIM
ClinVar		 PMID:16199547 PMID:19304573 PMID:20026666 PMID:20124439 PMID:21478160 More... NCBI chr 4:1,253,401...1,256,921
Ensembl chr 4:1,254,565...1,256,577 		JBrowse link
Familial Hyperbeta- and Prebetalipoproteinemia 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: Familial hyperbeta- and prebetalipoproteinemia ClinVar PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 More... NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
familial hypercholesterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:19743957 PMID:20800056 PMID:24497850 PMID:25215231 PMID:25741868 More... NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492 		JBrowse link
G AP1M2 adaptor related protein complex 1 subunit mu 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:69,341,289...69,353,906
Ensembl chr 2:69,341,283...69,354,013 		JBrowse link
G APOA2 apolipoprotein A2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:12522687 NCBI chr 4:89,237,514...89,239,126
Ensembl chr 4:89,237,511...89,240,319 		JBrowse link
G APOB apolipoprotein B 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 hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1		 ClinVar PMID:174884 PMID:221546 PMID:1360085 PMID:1424233 PMID:1454832 More... NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200 		JBrowse link
G APOE apolipoprotein E ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
G ATG4D autophagy related 4D cysteine peptidase ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:69,320,313...69,328,522
Ensembl chr 2:69,320,331...69,328,519 		JBrowse link
G C2H19orf38 chromosome 2 C19orf38 homolog ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:16250003 PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:69,584,550...69,600,760
Ensembl chr 2:69,585,883...69,600,756 		JBrowse link
G CARM1 coactivator associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:16250003 PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:69,602,121...69,644,862
Ensembl chr 2:69,602,136...69,644,854 		JBrowse link
G CBS cystathionine beta-synthase ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:8528202 PMID:10531322 PMID:11230183 PMID:14635102 PMID:15087459 More... NCBI chr13:206,205,942...206,231,363
Ensembl chr13:206,205,946...206,230,248 		JBrowse link
G CDC37 cell division cycle 37, HSP90 cochaperone ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:69,202,695...69,212,909
Ensembl chr 2:69,201,579...69,225,994 		JBrowse link
G CDKN2D cyclin dependent kinase inhibitor 2D ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:69,337,428...69,339,998
Ensembl chr 2:69,337,432...69,339,933 		JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:16250003 PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:69,474,011...69,574,427
Ensembl chr 2:69,474,031...69,574,424 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:14756670 PMID:17094996 PMID:19538517 PMID:20045108 PMID:22698793 More... NCBI chr 2:69,925,853...69,972,326
Ensembl chr 2:69,925,854...69,972,316 		JBrowse link
G EPHX2 epoxide hydrolase 2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 OMIM
ClinVar		 PMID:10862610 PMID:12522687 PMID:14673705 PMID:14732757 PMID:15845398 More... NCBI chr14:11,217,125...11,293,018
Ensembl chr14:11,216,978...11,293,410 		JBrowse link
G GHR growth hormone receptor ISO ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia		 OMIM
ClinVar		 PMID:7565946 PMID:8504296 PMID:9360502 PMID:11502828 PMID:12910492 More... NCBI chr16:27,126,300...27,422,618
Ensembl chr16:27,126,734...27,421,449 		JBrowse link
G GK glycerol kinase ISO RGD PMID:10642898 RGD:13702898 NCBI chr  X:26,470,422...26,558,892 JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205 		JBrowse link
G ICAM3 intercellular adhesion molecule 3 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:69,143,063...69,150,221
Ensembl chr 2:69,143,062...69,150,225 		JBrowse link
G ICAM4 intercellular adhesion molecule 4 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:69,108,610...69,110,053
Ensembl chr 2:69,108,690...69,110,962 		JBrowse link
G ICAM5 intercellular adhesion molecule 5 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:69,111,223...69,118,170
Ensembl chr 2:69,111,309...69,118,164 		JBrowse link
G ILF3 interleukin enhancer binding factor 3 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:69,413,875...69,443,216
Ensembl chr 2:69,413,982...69,443,214 		JBrowse link
G ITPRID1 ITPR interacting domain containing 1 susceptibility ISO OMIM NCBI chr18:41,428,527...41,474,647
Ensembl chr18:41,456,829...41,589,002 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:69,280,940...69,290,267
Ensembl chr 2:69,276,336...69,294,382 		JBrowse link
G KRI1 KRI1 homolog ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:69,328,182...69,337,104
Ensembl chr 2:69,328,198...69,337,108 		JBrowse link
G LDLR low density lipoprotein receptor ISO
IAGP		 ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
Hypercholesterolaemia		 OMIM
ClinVar
OMIA		 PMID:189940 PMID:200368 PMID:251034 PMID:268635 PMID:322919 More... NCBI chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,827 		JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:4351242 PMID:9536098 PMID:11326085 PMID:12016260 PMID:12464675 More... NCBI chr 6:83,030,629...83,054,387
Ensembl chr 6:83,030,702...83,054,377 		JBrowse link
G MIR199A-2 microRNA mir-199a-2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:16250003 PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:69,558,051...69,558,130
Ensembl chr 2:69,558,050...69,558,131 		JBrowse link
G MRPL4 mitochondrial ribosomal protein L4 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:69,063,679...69,082,692
Ensembl chr 2:69,063,674...69,082,688 		JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition ClinVar PMID:800756 PMID:2120714 PMID:2246507 PMID:9536098 PMID:10357843 More... NCBI chr 6:157,388,370...157,409,620
Ensembl chr 6:157,388,372...157,409,551 		JBrowse link
G PDE4A phosphodiesterase 4A ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:69,225,403...69,268,327
Ensembl chr 2:69,225,708...69,266,702 		JBrowse link
G PON2 paraoxonase 2 ISO DNA:missense mutation:cds:p.S311C (human) RGD PMID:16776623 RGD:1642625 NCBI chr 9:75,027,270...75,051,441
Ensembl chr 9:75,027,097...75,051,422 		JBrowse link
G QTRT1 queuine tRNA-ribosyltransferase catalytic subunit 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:69,450,792...69,471,487
Ensembl chr 2:69,450,808...69,471,487 		JBrowse link
G RAVER1 ribonucleoprotein, PTB binding 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:69,121,300...69,129,643
Ensembl chr 2:69,121,300...69,124,299
Ensembl chr 2:69,121,300...69,124,299
Ensembl chr 2:69,121,300...69,124,299 		JBrowse link
G RBP4 retinol binding protein 4 disease_progression ISO associated with myocardial infarction; protein:decreased expression:blood serum (human) RGD PMID:24720534 RGD:329845858 NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765 		JBrowse link
G S1PR2 sphingosine-1-phosphate receptor 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:69,050,396...69,057,270
Ensembl chr 2:69,049,270...69,057,270 		JBrowse link
G S1PR5 sphingosine-1-phosphate receptor 5 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:69,293,537...69,299,408
Ensembl chr 2:69,293,546...69,298,377 		JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:serum: RGD PMID:19004443 RGD:13207334 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547 		JBrowse link
G SLC44A2 solute carrier family 44 member 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:69,364,946...69,399,081
Ensembl chr 2:69,365,012...69,399,081 		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 Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:1998642 PMID:16250003 PMID:20809525 PMID:21382890 PMID:25741868 More... NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,295 		JBrowse link
G STAP1 signal transducing adaptor family member 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:26036859 NCBI chr 8:65,318,861...65,372,838
Ensembl chr 8:65,332,522...65,392,965 		JBrowse link
G TIMM29 translocase of inner mitochondrial membrane 29 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:16250003 PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:69,649,670...69,652,369
Ensembl chr 2:69,649,712...69,652,362 		JBrowse link
G TMED1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:16250003 PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:69,573,128...69,576,421
Ensembl chr 2:69,568,354...69,576,066 		JBrowse link
G TYK2 tyrosine kinase 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:69,157,774...69,183,555
Ensembl chr 2:69,157,811...69,183,456 		JBrowse link
G YIPF2 Yip1 domain family member 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:16250003 PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 2:69,644,000...69,649,691
Ensembl chr 2:69,641,052...69,649,824 		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 AMPD1 adenosine monophosphate deaminase 1 ISO ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:105,868,834...105,892,171
Ensembl chr 4:105,868,897...105,893,769 		JBrowse link
G APOB apolipoprotein B ISO ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE | ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B ClinVar PMID:174884 PMID:1360085 PMID:1431583 PMID:1466657 PMID:1493642 More... NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200 		JBrowse link
G LDLR low density lipoprotein receptor ISO ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B ClinVar PMID:7616128 PMID:7709162 PMID:9039985 PMID:9259195 PMID:9654205 More... NCBI chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,827 		JBrowse link
Familial Hyperchylomicronemia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA5 apolipoprotein A5 ISO ClinVar Annotator: match by term: Hyperlipoproteinemia type 1 ClinVar PMID:25741868 NCBI chr 9:44,177,834...44,180,880
Ensembl chr 9:44,178,606...44,180,885 		JBrowse link
G LPL lipoprotein lipase ISO ClinVar Annotator: match by term: Hyperlipoproteinemia type 1 ClinVar PMID:1351946 PMID:1371284 PMID:1400331 PMID:1479292 PMID:1505655 More... NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814 		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: LMF1-related condition | ClinVar Annotator: match by term: Lipase deficiency, combined OMIM
ClinVar		 PMID:17994020 PMID:19820022 PMID:22135386 PMID:22239554 PMID:24909692 More... NCBI chr 3:40,841,242...40,929,163
Ensembl chr 3:40,835,413...40,934,253 		JBrowse link
G LPL lipoprotein lipase ISO ClinVar Annotator: match by term: Lipase deficiency, combined ClinVar PMID:25741868 NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814 		JBrowse link
familial lipoprotein lipase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA5 apolipoprotein A5 ISO ClinVar Annotator: match by term: Hyperlipoproteinemia, type I ClinVar PMID:25741868 NCBI chr 9:44,177,834...44,180,880
Ensembl chr 9:44,178,606...44,180,885 		JBrowse link
G APOC2 apolipoprotein C2 ISO ClinVar Annotator: match by term: C-II ANAPOLIPOPROTEINEMIA ClinVar PMID:213719 PMID:1349286 PMID:1628605 PMID:1782747 PMID:1971748 More... NCBI chr 6:51,404,219...51,406,302 JBrowse link
G GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ISO ClinVar Annotator: match by term: Hyperlipoproteinemia, type I ClinVar PMID:20124439 PMID:22239554 PMID:25741868 NCBI chr 4:1,253,401...1,256,921
Ensembl chr 4:1,254,565...1,256,577 		JBrowse link
G LPL lipoprotein lipase ISO ClinVar Annotator: match by term: Familial Lipoprotein Lipase Deficiency | ClinVar Annotator: match by term: Familial chylomicronemia | ClinVar Annotator: match by term: Hyperlipemia essential familial | ClinVar Annotator: match by term: Hyperlipoproteinemia, type I OMIM
ClinVar		 PMID:1351946 PMID:1371284 PMID:1400331 PMID:1479292 PMID:1505655 More... NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814 		JBrowse link
G PHKG2 phosphorylase kinase catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Familial Lipoprotein Lipase Deficiency ClinVar PMID:25266922 PMID:25741868 PMID:35038814 PMID:35257483 NCBI chr 3:17,640,790...17,656,765
Ensembl chr 3:17,639,996...17,656,618 		JBrowse link
Floating-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: Floating-betalipoproteinemia ClinVar PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 More... NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
glycogen storage disease IXA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,370,327...15,518,746
Ensembl chr  X:15,371,805...15,463,619 		JBrowse link
G BCLAF3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:16,252,407...16,312,426
Ensembl chr  X:16,252,420...16,312,439 		JBrowse link
G BEND2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:14,635,795...14,703,934 JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:14,858,826...15,096,969
Ensembl chr  X:14,952,225...15,078,855 		JBrowse link
G EIF1AX eukaryotic translation initiation factor 1A X-linked ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:16,429,625...16,449,581
Ensembl chr  X:16,429,628...16,449,556 		JBrowse link
G MAP3K15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,716,898...15,867,377
Ensembl chr  X:15,715,991...15,867,120 		JBrowse link
G MAP7D2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:16,327,718...16,423,546
Ensembl chr  X:16,327,968...16,422,772 		JBrowse link
G NHS NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:13,854,950...14,209,085
Ensembl chr  X:14,097,006...14,206,568 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,699,924...15,718,908
Ensembl chr  X:15,700,050...15,718,903 		JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar Annotator: match by term: Glycogen storage disease IXa2 | ClinVar Annotator: match by term: LIVER GLYCOGENOSIS, X-LINKED, TYPE I OMIM
ClinVar		 PMID:2303074 PMID:5306139 PMID:7711737 PMID:7847371 PMID:7959740 More... NCBI chr  X:15,279,398...15,365,731
Ensembl chr  X:15,283,120...15,365,565 		JBrowse link
G PPEF1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,111,230...15,251,415
Ensembl chr  X:15,138,350...15,251,228 		JBrowse link
G RAI2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:14,246,776...14,633,071
Ensembl chr  X:14,244,317...14,309,143 		JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:16,452,401...16,576,854
Ensembl chr  X:16,452,405...16,576,859 		JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,080,972...15,099,426
Ensembl chr  X:15,085,050...15,109,243 		JBrowse link
G SCML1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:14,210,164...14,222,053 JBrowse link
G SCML2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:14,715,357...14,823,016
Ensembl chr  X:14,717,606...14,823,413 		JBrowse link
G SH3KBP1 SH3 domain containing kinase binding protein 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,887,131...16,229,212
Ensembl chr  X:15,885,069...16,224,183 		JBrowse link
glycogen storage disease IXB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC11 ATP binding cassette subfamily C member 11 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr 6:36,462,190...36,546,989
Ensembl chr 6:36,465,192...36,546,976 		JBrowse link
G ABCC12 ATP binding cassette subfamily C member 12 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr 6:36,559,645...36,653,044
Ensembl chr 6:36,557,290...36,649,715 		JBrowse link
G C6H16orf87 chromosome 6 C16orf87 homolog ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr 6:37,784,499...37,817,907
Ensembl chr 6:37,784,694...37,817,195 		JBrowse link
G DNAJA2 DnaJ heat shock protein family (Hsp40) member A2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr 6:37,584,012...37,606,198
Ensembl chr 6:37,591,916...37,608,361 		JBrowse link
G GPT2 glutamic--pyruvic transaminase 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr 6:37,625,428...37,669,695
Ensembl chr 6:37,625,436...37,669,663 		JBrowse link
G ITFG1 integrin alpha FG-GAP repeat containing 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr 6:37,193,632...37,430,910
Ensembl chr 6:37,193,711...37,432,883 		JBrowse link
G MYLK3 myosin light chain kinase 3 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr 6:37,850,117...37,920,862
Ensembl chr 6:37,850,754...37,920,754 		JBrowse link
G NETO2 neuropilin and tolloid like 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr 6:37,443,534...37,506,589
Ensembl chr 6:37,443,699...37,505,736 		JBrowse link
G ORC6 origin recognition complex subunit 6 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr 6:37,934,903...37,943,950
Ensembl chr 6:37,934,908...37,943,886 		JBrowse link
G PHKB phosphorylase kinase regulatory subunit beta ISO ClinVar Annotator: match by term: Glycogen storage disease IXb | ClinVar Annotator: match by term: PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE OMIM
ClinVar		 PMID:9215682 PMID:9326319 PMID:9402963 PMID:9536098 PMID:12825073 More... NCBI chr 6:36,994,424...37,193,631
Ensembl chr 6:36,991,274...37,193,593 		JBrowse link
G VPS35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr 6:37,944,099...37,977,091
Ensembl chr 6:37,944,127...37,986,171 		JBrowse link
glycogen storage disease IXC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHKG2 phosphorylase kinase catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: GSD IXc | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar Annotator: match by term: Glycogen storage disease type IXc OMIM
ClinVar		 PMID:2558039 PMID:6962066 PMID:7562285 PMID:8896567 PMID:9384616 More... NCBI chr 3:17,640,790...17,656,765
Ensembl chr 3:17,639,996...17,656,618 		JBrowse link
glycogen storage disease IXD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHKA1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: GSD IXd | ClinVar Annotator: match by term: Glycogen storage disease IXd | ClinVar Annotator: match by term: PHKA1-related condition OMIM
ClinVar		 PMID:2252364 PMID:7874115 PMID:8145916 PMID:9536098 PMID:9731190 More... NCBI chr  X:58,456,097...58,583,216
Ensembl chr  X:58,455,939...58,583,216 		JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXd ClinVar PMID:10330341 PMID:12862311 PMID:23578772 PMID:25741868 PMID:27103379 More... NCBI chr  X:15,279,398...15,365,731
Ensembl chr  X:15,283,120...15,365,565 		JBrowse link
Hepatic Lipase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LIPC lipase C, hepatic type ISO ClinVar Annotator: match by term: Hepatic lipase deficiency | ClinVar Annotator: match by term: Hyperlipidemia due to hepatic triglyceride lipase deficiency OMIM
ClinVar		 PMID:1671786 PMID:1883393 PMID:8123642 PMID:8732782 PMID:9536098 More... NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,687...113,583,963 		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:1371284 PMID:1400331 PMID:1479292 PMID:1505655 More... NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814 		JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO ClinVar Annotator: match by term: Hyperapobetalipoproteinemia, susceptibility to ClinVar PMID:10828087 PMID:12006394 PMID:15309680 NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,741...3,364,239 		JBrowse link
Hypercholesterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver, jejunum (rat)		 CTD
RGD		 PMID:22022523 PMID:24619822 RGD:19165129 NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492 		JBrowse link
G ABCB11 ATP binding cassette subfamily B member 11 ISO RGD PMID:21726512 RGD:14688050 NCBI chr15:75,402,296...75,487,092
Ensembl chr15:75,402,396...75,486,403 		JBrowse link
G ABCG5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:28696550 PMID:35042526 PMID:36991406 NCBI chr 3:96,616,304...96,656,893
Ensembl chr 3:96,616,246...96,656,889 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 ISO DNA:polymorphism: :p.M429V RGD PMID:15816807 RGD:1601094 NCBI chr 3:96,596,975...96,616,224
Ensembl chr 3:96,596,531...96,616,229 		JBrowse link
G ACAT2 acetyl-CoA acetyltransferase 2 ISO RGD PMID:11100118 RGD:1556516 NCBI chr 1:7,600,616...7,612,861
Ensembl chr 1:7,598,735...7,612,866 		JBrowse link
G ALPL alkaline phosphatase, biomineralization associated ISO RGD PMID:17403193 RGD:1601171 NCBI chr 6:79,589,695...79,649,646
Ensembl chr 6:79,589,045...79,649,644 		JBrowse link
G APOA1 apolipoprotein A1 ISO DNA:polymorphisms: :-75G>A, 83C>T (human) RGD PMID:16309370 RGD:1601184 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713 		JBrowse link
G APOB apolipoprotein B ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:20657596 PMID:22923420 PMID:24033266 PMID:25647241 PMID:25741868 More... NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200 		JBrowse link
G APOC2 apolipoprotein C2 susceptibility ISO associated with Hypertriglyceridemia;DNA:missense mutation: :p.K38Q (human) RGD PMID:8490626 RGD:1601207 NCBI chr 6:51,404,219...51,406,302 JBrowse link
G APOC3 apolipoprotein C3 ISO RGD PMID:2879788 RGD:1578447 NCBI chr 9:44,211,171...44,213,538
Ensembl chr 9:44,211,194...44,213,533 		JBrowse link
G APOE apolipoprotein E susceptibility
severity		 ISO DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human)
ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar Annotator: match by term: Hypercholesterolemia
associated with Kidney Failure, Chronic; DNA:missense mutations, haplotype:cds:p.C130R, p.C176R (human)		 RGD
ClinVar		 PMID:2992507 PMID:3243553 PMID:6300187 PMID:9649566 PMID:16103896 More... RGD:1601229 RGD:6903838 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
G ATM ATM serine/threonine kinase susceptibility ISO RGD PMID:15863839 RGD:1601249 NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552 		JBrowse link
G CASP3 caspase 3 ISO RGD PMID:24484682 RGD:13782354 NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213 		JBrowse link
G CASP9 caspase 9 ISO RGD PMID:24484682 RGD:13782354 NCBI chr 6:74,707,597...74,730,033
Ensembl chr 6:74,706,516...74,730,007 		JBrowse link
G CD36 CD36 molecule ISO RGD PMID:10946357 RGD:11040931 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105 		JBrowse link
G CD40 CD40 molecule treatment ISO protein:increased expression:serum RGD PMID:21574786 RGD:7248754 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528 		JBrowse link
G CD40LG CD40 ligand treatment ISO associated with Diabetes Mellitus, Type 2
protein:increased expression:platelet (rat)		 RGD PMID:18787388 PMID:21574786 PMID:26950185 RGD:11344960 RGD:7248428 RGD:7248754 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21852083 NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
G CPB2 carboxypeptidase B2 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:16123492 RGD:2313641 NCBI chr11:21,234,447...21,298,250
Ensembl chr11:21,234,447...21,298,241 		JBrowse link
G CSF1 colony stimulating factor 1 ISO RGD PMID:9158105 RGD:1641957 NCBI chr 4:110,178,466...110,198,232
Ensembl chr 4:110,178,475...110,197,900 		JBrowse link
G CTF1 cardiotrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21803294 NCBI chr 3:17,539,927...17,545,250
Ensembl chr 3:17,539,941...17,544,396 		JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO mRNA:decreased expression:liver RGD PMID:16472823 RGD:13782194 NCBI chr 9:72,057,506...72,079,587
Ensembl chr 9:72,057,511...72,079,444 		JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 ISO CTD Direct Evidence: therapeutic
mRNA:decreased expression:liver		 CTD
RGD		 PMID:8245718 PMID:16472823 RGD:13782194 NCBI chr 4:74,343,101...74,372,628
Ensembl chr 4:74,343,123...74,372,621 		JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15486036 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348 		JBrowse link
G ENG endoglin treatment ISO protein:increased expression, aortic root, aortic arch, endothelium (mouse) RGD PMID:17901886 RGD:7257552 NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO associated with Carcinoma, Ductal, Breast RGD PMID:15491965 RGD:8655598 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:21966115 RGD:10449170 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
G GPR17 G protein-coupled receptor 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34144038 NCBI chr15:59,692,992...59,702,513
Ensembl chr15:59,692,996...59,701,265 		JBrowse link
G GSR glutathione-disulfide reductase treatment ISO RGD PMID:24120393 PMID:24770475 RGD:10401874 RGD:10401896 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,984 		JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase treatment ISO Ldlr knockout mouse RGD PMID:31589306 RGD:243065123 NCBI chr 3:97,580,756...97,595,033
Ensembl chr 3:97,580,851...97,595,021 		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 9:46,300,039...46,308,681
Ensembl chr 9:46,300,050...46,308,868 		JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver
mRNA:decreased expression:liver (rat)		 CTD
RGD		 PMID:1611649 PMID:8593127 PMID:17250646 PMID:24619822 PMID:25168180 RGD:13782271 RGD:19165129 RGD:5508480 RGD:5508696 NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,224...84,402,957 		JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha resistance ISO Finnish and Mexican populations; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1B (2-1-1) RGD PMID:16804065 RGD:1601642 NCBI chr17:46,783,772...46,847,505
Ensembl chr17:46,783,777...46,847,500 		JBrowse link
G HP haptoglobin ISO protein:increased expression:plasma RGD PMID:16944942 RGD:1626342 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:12921987 RGD:1624216 NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,526 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205 		JBrowse link
G ITGAM integrin subunit alpha M ISO protein:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:18676132 RGD:329853761 NCBI chr 3:17,216,719...17,272,134
Ensembl chr 3:17,204,610...17,273,613 		JBrowse link
G ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 susceptibility ISO DNA:SNP:intron:rs3821831, homozygous C allele associated with higher total and HDL cholesterol
ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to		 RGD
ClinVar		 PMID:14661079 RGD:1627650 NCBI chr13:34,928,455...34,948,250
Ensembl chr13:34,928,439...34,948,229 		JBrowse link
G ITPRID1 ITPR interacting domain containing 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to ClinVar PMID:12955585 NCBI chr18:41,428,527...41,474,647
Ensembl chr18:41,456,829...41,589,002 		JBrowse link
G LDLR low density lipoprotein receptor ISO ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:322919 PMID:484703 PMID:503269 PMID:583768 PMID:1301940 More... NCBI chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,827 		JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 ISO DNA:mutation:splice site; mRNA:in-frame deletion; protein:lacks 26 amino acids:beta strands 6 and 7 lost RGD PMID:15599766 RGD:1626107 NCBI chr 6:83,030,629...83,054,387
Ensembl chr 6:83,030,702...83,054,377 		JBrowse link
G LEP leptin ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:22948215 PMID:25086370 RGD:12904911 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323 		JBrowse link
G LIPC lipase C, hepatic type ISO 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:7830494 PMID:11279518 RGD:2308793 RGD:2308841 RGD:2308850 NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,687...113,583,963 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Hypercholesterolaemia ClinVar PMID:19589617 PMID:22918509 PMID:23183350 PMID:24033266 PMID:25741868 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G LOC110255234 liver carboxylesterase-like ISO CTD Direct Evidence: therapeutic CTD PMID:12773168
G LOC110258578 interleukin-1 beta-like ISO protein:increased expression:serum RGD PMID:17330503 RGD:1626623
G LPL lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21852083 NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814 		JBrowse link
G LSS lanosterol synthase ISO mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271
G MIF macrophage migration inhibitory factor ISO mRNA:increased expression:glomerulus RGD PMID:9158105 RGD:1641957 NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,841,068 		JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271 NCBI chr 6:1,008,100...1,014,303
Ensembl chr 6:1,008,100...1,014,303 		JBrowse link
G MYLK myosin light chain kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21052790 NCBI chr13:136,509,878...136,809,674
Ensembl chr13:136,509,755...136,809,668 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14871415 NCBI chr 3:11,820,367...11,834,394
Ensembl chr 3:11,820,266...11,839,354 		JBrowse link
G NOX1 NADPH oxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20832062 NCBI chr  X:82,540,664...82,575,811
Ensembl chr  X:82,540,667...82,586,532 		JBrowse link
G NPC1L1 NPC1 like intracellular cholesterol transporter 1 ISO RGD PMID:15671032 RGD:1642184 NCBI chr18:50,726,854...50,757,676
Ensembl chr18:50,726,922...50,757,649 		JBrowse link
G NPY neuropeptide Y ISO associated with Obesity;DNA:missense mutation:cds:p.L7P (human) RGD PMID:11689216 RGD:1580177 NCBI chr18:47,985,796...47,993,726
Ensembl chr18:47,985,725...47,992,667 		JBrowse link
G NR4A3 nuclear receptor subfamily 4 group A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16005304 NCBI chr 1:241,569,867...241,611,735
Ensembl chr 1:241,570,010...241,611,727 		JBrowse link
G PAPPA pappalysin 1 ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:14661010 PMID:15531533 RGD:1642328 RGD:1642329 NCBI chr 1:256,544,496...256,784,813
Ensembl chr 1:256,544,928...256,780,760 		JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Hypercholesterolaemia ClinVar PMID:16183066 PMID:16571601 PMID:16912035 PMID:17380167 PMID:17765244 More... NCBI chr 6:157,388,370...157,409,620
Ensembl chr 6:157,388,372...157,409,551 		JBrowse link
G PDE1C phosphodiesterase 1C ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar NCBI chr18:40,818,316...41,410,555
Ensembl chr18:40,820,644...41,409,087 		JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16229851 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723 		JBrowse link
G SCAP SREBF chaperone ISO protein:increased expression:liver RGD PMID:16741953 RGD:1581819 NCBI chr13:30,253,262...30,320,625
Ensembl chr13:30,253,268...30,320,526 		JBrowse link
G SCARB1 scavenger receptor class B member 1 ISO RGD PMID:15967843 RGD:1580004 NCBI chr14:28,301,421...28,393,568
Ensembl chr14:28,301,294...28,393,568 		JBrowse link
G SELE selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chr 4:81,289,061...81,299,657 JBrowse link
G SERPINF2 serpin family F member 2 ISO protein:decreased expression:serum RGD PMID:1384011 RGD:1625534 NCBI chr12:47,934,551...47,942,283
Ensembl chr12:47,933,864...47,942,285 		JBrowse link
G SOAT2 sterol O-acyltransferase 2 susceptibility ISO RGD PMID:11100118 RGD:1556516 NCBI chr 5:18,358,941...18,371,262
Ensembl chr 5:18,358,673...18,371,264 		JBrowse link
G SQLE squalene epoxidase ISO mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271 NCBI chr 4:14,669,789...14,700,152
Ensembl chr 4:14,669,791...14,700,126 		JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 ISO protein:altered localization:liver RGD PMID:16741953 RGD:1581819 NCBI chr12:60,733,967...60,750,951
Ensembl chr12:60,733,907...60,751,267 		JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar NCBI chr 5:6,719,484...6,784,724
Ensembl chr 5:6,719,490...6,784,671 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,920...117,511,222 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO associated with Carcinoma, Ductal, Breast RGD PMID:15491965 RGD:8655598 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		JBrowse link
G VLDLR very low density lipoprotein receptor ISO RGD PMID:8636110 RGD:1625573 NCBI chr 1:219,178,501...219,210,332
Ensembl chr 1:219,173,507...219,210,343 		JBrowse link
Hypercholesterolemia, Autosomal Dominant, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOB apolipoprotein B ISO ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 ClinVar PMID:25741868 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200 		JBrowse link
G BSND barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 ClinVar PMID:28492532 PMID:30269829 NCBI chr 6:157,424,389...157,432,571
Ensembl chr 6:157,425,878...157,432,580 		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 term: PCSK9-related disorder OMIM
ClinVar		 PMID:800756 PMID:2120714 PMID:2246507 PMID:9536098 PMID:10357843 More... NCBI chr 6:157,388,370...157,409,620
Ensembl chr 6:157,388,372...157,409,551 		JBrowse link
Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis 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: Hyperlipemia with familial hypercholesterolemic xanthomatosis ClinVar PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 More... NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		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 4:89,395,133...89,401,048
Ensembl chr 4:89,395,482...89,401,047 		JBrowse link
Hyperlipoproteinemia Type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia ClinVar PMID:19743957 PMID:20800056 PMID:24497850 PMID:25215231 PMID:25741868 More... NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492 		JBrowse link
G ADRB2 adrenoceptor beta 2 ISO DNA:polymorphism: :p.Q27E RGD PMID:17020471 RGD:1601121 NCBI chr 2:150,032,649...150,035,591
Ensembl chr 2:150,033,579...150,040,731 		JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:105,868,834...105,892,171
Ensembl chr 4:105,868,897...105,893,769 		JBrowse link
G APOA1 apolipoprotein A1 ISO DNA:polymorphism:promoter:-75G>A (human) RGD PMID:9699897 RGD:1601186 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713 		JBrowse link
G APOA2 apolipoprotein A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12522687 NCBI chr 4:89,237,514...89,239,126
Ensembl chr 4:89,237,511...89,240,319 		JBrowse link
G APOA4 apolipoprotein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 9:44,201,587...44,204,072
Ensembl chr 9:44,201,508...44,204,206 		JBrowse link
G APOB apolipoprotein B ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | 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: Familial hypercholesterolemia 2 | 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: Familial hypercholesterolemia 2 | 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: LDL RECEPTOR DISORDER
ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | 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: Hyperlipoproteinemia type 2
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: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2
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 IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2
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: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2
ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | 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: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2		 OMIM
ClinVar		 PMID:174884 PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 More... NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200 		JBrowse link
G APOC3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 9:44,211,171...44,213,538
Ensembl chr 9:44,211,194...44,213,533 		JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
G GHR growth hormone receptor ISO ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia ClinVar PMID:7565946 PMID:8504296 PMID:9360502 PMID:11502828 PMID:12910492 More... NCBI chr16:27,126,300...27,422,618
Ensembl chr16:27,126,734...27,421,449 		JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,224...84,402,957 		JBrowse link
G LDLR low density lipoprotein receptor ISO 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 | 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: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2
ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | 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: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER
ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | 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: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2
ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | 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: Hyperlipoproteinemia Type IIb
ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | 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: Familial hypercholesterolemia 2 | 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-beta-lipoproteinemia | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II		 ClinVar PMID:189940 PMID:200368 PMID:251034 PMID:268635 PMID:322919 More... NCBI chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,827 		JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:83,030,629...83,054,387
Ensembl chr 6:83,030,702...83,054,377 		JBrowse link
G LIPC lipase C, hepatic type ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,687...113,583,963 		JBrowse link
G LPL lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:16280123 RGD:1642031 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G MTTP microsomal triglyceride transfer protein ISO RGD PMID:17215532 RGD:1625482 NCBI chr 8:120,820,660...120,871,468
Ensembl chr 8:120,820,656...120,879,388 		JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 severity ISO DNA:missense mutation:cds:p.D374Y (human)
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B		 RGD
ClinVar		 PMID:10357843 PMID:10764678 PMID:11668641 PMID:11941481 PMID:12175777 More... RGD:1581001 NCBI chr 6:157,388,370...157,409,620
Ensembl chr 6:157,388,372...157,409,551 		JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 PMID:16238680 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723 		JBrowse link
G PON2 paraoxonase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 9:75,027,270...75,051,441
Ensembl chr 9:75,027,097...75,051,422 		JBrowse link
hyperlipoproteinemia type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA5 apolipoprotein A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16143024 NCBI chr 9:44,177,834...44,180,880
Ensembl chr 9:44,178,606...44,180,885 		JBrowse link
G APOC3 apolipoprotein C3 ISO RGD PMID:2879788 RGD:1578447 NCBI chr 9:44,211,171...44,213,538
Ensembl chr 9:44,211,194...44,213,533 		JBrowse link
G APOE apolipoprotein E ISO ClinVar Annotator: match by term: APOE5 VARIANT | ClinVar Annotator: match by term: Coronary artery disease, severe, susceptibility to | ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia | ClinVar Annotator: match by term: Floating-betalipoproteinemia | ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON) ClinVar
OMIM		 PMID:1356443 PMID:1360898 PMID:1361196 PMID:1713245 PMID:2101409 More... NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
G LDLR low density lipoprotein receptor ISO ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia ClinVar PMID:20809525 PMID:25741868 PMID:28492532 PMID:28645073 PMID:33740630 NCBI chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,827 		JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:83,030,629...83,054,387
Ensembl chr 6:83,030,702...83,054,377 		JBrowse link
hyperlipoproteinemia type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA5 apolipoprotein A5 ISO OMIM NCBI chr 9:44,177,834...44,180,880
Ensembl chr 9:44,178,606...44,180,885 		JBrowse link
hyperlipoproteinemia type V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA5 apolipoprotein A5 ISO ClinVar Annotator: match by term: Familial type 5 hyperlipoproteinemia ClinVar
OMIM		 PMID:12417524 PMID:12417525 PMID:16200213 PMID:16806135 PMID:18324930 More... NCBI chr 9:44,177,834...44,180,880
Ensembl chr 9:44,178,606...44,180,885 		JBrowse link
Hyperlipoproteinemias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA4 apolipoprotein A4 ISO protein:increased expression:blood plasma (human) RGD PMID:226830 RGD:5685673 NCBI chr 9:44,201,587...44,204,072
Ensembl chr 9:44,201,508...44,204,206 		JBrowse link
G APOA5 apolipoprotein A5 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C, p.S19W (human) RGD PMID:18468520 RGD:2313317 NCBI chr 9:44,177,834...44,180,880
Ensembl chr 9:44,178,606...44,180,885 		JBrowse link
G APOC2 apolipoprotein C2 susceptibility ISO protein:increased expression:serum
DNA:missense mutation: :p.L72P (human)		 RGD PMID:1468157 PMID:16153625 RGD:1601204 RGD:1601208 NCBI chr 6:51,404,219...51,406,302 JBrowse link
G APOC3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2022742 NCBI chr 9:44,211,171...44,213,538
Ensembl chr 9:44,211,194...44,213,533 		JBrowse link
G APOH apolipoprotein H ISO RGD PMID:6613192 RGD:2313992 NCBI chr12:12,827,195...12,839,172
Ensembl chr12:12,827,201...12,839,175 		JBrowse link
G HNF1A HNF1 homeobox A susceptibility ISO DNA:polymorphism:cd: p.I27L (human) RGD PMID:12788852 RGD:329901805 NCBI chr14:40,868,819...40,888,322
Ensembl chr14:40,868,676...40,888,328 		JBrowse link
G LIPC lipase C, hepatic type ISO CTD Direct Evidence: marker/mechanism
associated with Nephrosis; protein:decreased expression:plasma (rat)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human)
associated with Obesity and Diabetes; DNA:transition:promoter:-514C>T (human)		 CTD
RGD		 PMID:6480830 PMID:11427226 PMID:15941898 PMID:18160998 RGD:2308798 RGD:2308829 RGD:2308834 NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,687...113,583,963 		JBrowse link
G PON1 paraoxonase 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:11015468 PMID:15324535 RGD:731237 RGD:8547684 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723 		JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:10828087 NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,741...3,364,239 		JBrowse link
G SERPINF2 serpin family F member 2 ISO RGD PMID:6121140 RGD:1625537 NCBI chr12:47,934,551...47,942,283
Ensembl chr12:47,933,864...47,942,285 		JBrowse link
Hypertriglyceridemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACACA acetyl-CoA carboxylase alpha treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr12:38,580,916...38,875,067
Ensembl chr12:38,581,457...38,824,712 		JBrowse link
G ACACB acetyl-CoA carboxylase beta treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr14:41,621,574...41,739,916
Ensembl chr14:41,621,574...41,739,916 		JBrowse link
G ACP1 acid phosphatase 1 ISO associated with Obesity RGD PMID:12409270 RGD:1625288 NCBI chr 3:132,671,408...132,684,793
Ensembl chr 3:132,667,045...132,684,674 		JBrowse link
G ADA adenosine deaminase treatment ISO RGD PMID:30280312 RGD:152995395 NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO associated with HIV Infections RGD PMID:21595566 RGD:8694463 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646 		JBrowse link
G AHR aryl hydrocarbon receptor treatment ISO RGD PMID:23644946 RGD:401794573 NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943 		JBrowse link
G AHSG alpha 2-HS glycoprotein ISO protein:increased expression:serum RGD PMID:19228823 RGD:2313809 NCBI chr13:124,426,313...124,438,848
Ensembl chr13:124,426,308...124,438,840 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32045588
G ANGPTL3 angiopoietin like 3 ISO RGD PMID:12672813 RGD:1578347 NCBI chr 6:149,836,417...149,845,854
Ensembl chr 6:149,832,542...149,845,831 		JBrowse link
G ANGPTL4 angiopoietin like 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28842503 NCBI chr 2:70,905,767...70,912,892
Ensembl chr 2:70,904,531...70,912,974 		JBrowse link
G APOA1 apolipoprotein A1 no_association
treatment		 ISO DNA:polymorphism:promoter:-75G>A RGD PMID:7910586 PMID:23644946 RGD:1601187 RGD:401794573 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713 		JBrowse link
G APOA2 apolipoprotein A2 ISO DNA:polymorphism RGD PMID:9489233 RGD:1601190 NCBI chr 4:89,237,514...89,239,126
Ensembl chr 4:89,237,511...89,240,319 		JBrowse link
G APOA4 apolipoprotein A4 ISO human gene in mouse model RGD PMID:2167514 RGD:5685672 NCBI chr 9:44,201,587...44,204,072
Ensembl chr 9:44,201,508...44,204,206 		JBrowse link
G APOA5 apolipoprotein A5 ISO ClinVar Annotator: match by term: Hypertriglyceridemia ClinVar PMID:18324930 PMID:19447388 PMID:23151256 PMID:23307945 PMID:24591733 More... NCBI chr 9:44,177,834...44,180,880
Ensembl chr 9:44,178,606...44,180,885 		JBrowse link
G APOB apolipoprotein B ISO protein:increased expression:plasma (rat)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:8121310 PMID:20657596 RGD:11353966 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200 		JBrowse link
G APOC2 apolipoprotein C2 susceptibility ISO RGD PMID:3944267 PMID:7590197 RGD:1601205 RGD:1601214 NCBI chr 6:51,404,219...51,406,302 JBrowse link
G APOC3 apolipoprotein C3 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent or Coronary Disease;DNA:polymorphism RGD PMID:7705829 PMID:15715433 RGD:1578444 RGD:2306767 NCBI chr 9:44,211,171...44,213,538
Ensembl chr 9:44,211,194...44,213,533 		JBrowse link
G APOE apolipoprotein E susceptibility ISO associated with Metabolic Syndrome X; DNA:missense mutations:cds:p.C112R, p.R158C (human) RGD PMID:15713714 PMID:28808185 RGD:13703132 RGD:1601235 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism
associated with diabetes mellitus		 CTD
RGD		 PMID:8149699 PMID:23000450 RGD:1601335 NCBI chr13:104,946,732...105,007,568 JBrowse link
G CFTR CF transmembrane conductance regulator ISO associated with Pancreatitis;DNA:missense mutation, haplotype: :p.I556V (human) RGD PMID:17981921 RGD:11566035 NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950 		JBrowse link
G CRP C-reactive protein, pentraxin-related ISO CTD Direct Evidence: therapeutic CTD PMID:11893366 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 treatment ISO RGD PMID:23644946 RGD:401794573 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775 		JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 treatment ISO RGD PMID:18183944 RGD:10401058 NCBI chr 4:452,890...463,665
Ensembl chr 4:452,662...466,684 		JBrowse link
G DGAT2 diacylglycerol O-acyltransferase 2 treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr 9:10,032,163...10,066,082
Ensembl chr 9:10,032,128...10,068,437 		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 chr11:78,512,389...78,518,668
Ensembl chr11:78,512,137...78,518,668 		JBrowse link
G FABP2 fatty acid binding protein 2 ISO DNA:polymorphism:CDS:amino acid A54T, in a normal glucose tolerant population from urban south India
associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.A54T (human)		 RGD PMID:10999802 PMID:16919542 RGD:1300313 RGD:1626401 NCBI chr 8:104,464,342...104,468,059
Ensembl chr 8:104,464,342...104,470,480 		JBrowse link
G FASN fatty acid synthase treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr12:922,405...937,560
Ensembl chr12:920,509...937,561 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:22947172 RGD:10449176 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
G GCKR glucokinase regulator susceptibility ISO ClinVar Annotator: match by term: Hypertriglyceridemia
DNA:SNPs,haplotypes: (rs780094) (human)		 ClinVar
RGD		 PMID:22182842 PMID:25741868 PMID:27599772 PMID:28492532 RGD:401794577 NCBI chr 3:111,649,557...111,683,539
Ensembl chr 3:111,649,539...111,676,772 		JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO RGD PMID:11118009 RGD:1625423 NCBI chr 3:73,028,750...73,086,191
Ensembl chr 3:73,028,804...73,085,319 		JBrowse link
G GPAM glycerol-3-phosphate acyltransferase, mitochondrial treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr14:122,538,600...122,582,390
Ensembl chr14:122,538,603...122,579,148 		JBrowse link
G GPR55 G protein-coupled receptor 55 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30148676 NCBI chr15:131,655,655...131,674,816
Ensembl chr15:131,655,663...131,673,693 		JBrowse link
G GPX3 glutathione peroxidase 3 ISO associated with coronary artery disease;DNA:SNP: :rs3828599 (human) RGD PMID:31396447 RGD:401827159 NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026 		JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha ISO Finnish and Mexican populations; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1A (1-1-2) RGD PMID:16804065 RGD:1601642 NCBI chr17:46,783,772...46,847,505
Ensembl chr17:46,783,777...46,847,500 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer ISO RGD PMID:8843746 RGD:1626687 NCBI chr16:35,101,304...35,151,832
Ensembl chr16:35,101,306...35,192,220 		JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841 		JBrowse link
G INSIG1 insulin induced gene 1 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chr18:2,885,494...2,898,758
Ensembl chr18:2,885,612...2,898,767 		JBrowse link
G INSIG2 insulin induced gene 2 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chr15:23,676,684...23,699,591
Ensembl chr15:23,676,683...23,699,582 		JBrowse link
G LAMC1 laminin subunit gamma 1 susceptibility ISO DNA:SNPs,haplotypes: (rs10911205) (human) RGD PMID:27599772 RGD:401794577 NCBI chr 9:124,283,668...124,405,967
Ensembl chr 9:124,283,224...124,405,964 		JBrowse link
G LCAT lecithin-cholesterol acyltransferase ISO RGD PMID:14668345 RGD:1581782 NCBI chr 6:28,550,356...28,553,561
Ensembl chr 6:28,550,358...28,553,566 		JBrowse link
G LDLR low density lipoprotein receptor ISO RGD PMID:27378433 PMID:28469073 RGD:12910100 RGD:12910104 NCBI chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,827 		JBrowse link
G LEP leptin ISO RGD PMID:22948215 RGD:12904911 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323 		JBrowse link
G LIPC lipase C, hepatic type ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human) RGD PMID:187516 RGD:2308846 NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,687...113,583,963 		JBrowse link
G LIPE lipase E, hormone sensitive type ISO RGD PMID:11016888 RGD:2313581 NCBI chr 6:49,543,671...49,560,126
Ensembl chr 6:49,540,708...49,560,125 		JBrowse link
G LIPI lipase I susceptibility ISO DNA:polymorphism: :p.C55Y RGD PMID:12719377 RGD:1625450 NCBI chr13:179,128,549...179,180,612
Ensembl chr13:179,128,660...179,180,626 		JBrowse link
G LMF1 lipase maturation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17994020 NCBI chr 3:40,841,242...40,929,163
Ensembl chr 3:40,835,413...40,934,253 		JBrowse link
G LPL lipoprotein lipase susceptibility ISO ClinVar Annotator: match by term: Hypertriglyceridemia RGD
ClinVar		 PMID:17848837 PMID:25741868 RGD:2313305 NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814 		JBrowse link
G LTA lymphotoxin alpha no_association
susceptibility		 ISO DNA:polymorphism
associated with Diabetes Mellitus, Non-Insulin-Dependent		 RGD PMID:7783649 PMID:9245742 RGD:1625035 RGD:1625036 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:32045588 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512 		JBrowse link
G MLXIPL MLX interacting protein like treatment
susceptibility		 ISO DNA:SNPs,haplotypes: (rs17145738) (human) RGD PMID:26394137 PMID:27599772 RGD:329955565 RGD:401794577 NCBI chr 3:10,898,675...10,934,257
Ensembl chr 3:10,898,670...10,934,048 		JBrowse link
G MLYCD malonyl-CoA decarboxylase treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr 6:4,683,386...4,698,698
Ensembl chr 6:4,681,664...4,698,661 		JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO associated with Insulin Resistance RGD PMID:20566415 RGD:10040984 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888 		JBrowse link
G NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 ISO associated with obesity RGD PMID:20729114 RGD:13801195 NCBI chr10:33,849,206...33,865,080
Ensembl chr10:33,802,051...33,865,385 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:decreased expression:aorta RGD PMID:17824809 RGD:2292131 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		JBrowse link
G PDE5A phosphodiesterase 5A ISO RGD PMID:18787522 RGD:2314464 NCBI chr 8:104,270,858...104,420,955
Ensembl chr 8:104,270,881...104,420,953 		JBrowse link
G PKLR pyruvate kinase L/R treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr 4:94,536,978...94,546,561
Ensembl chr 4:94,537,019...94,546,555 		JBrowse link
G PLIN2 perilipin 2 ISO associated with Obesity RGD PMID:17484887 RGD:1625752 NCBI chr 1:203,683,867...203,709,277
Ensembl chr 1:203,683,862...203,709,273 		JBrowse link
G PLTP phospholipid transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr17:48,089,789...48,101,604
Ensembl chr17:48,089,785...48,101,515 		JBrowse link
G PON1 paraoxonase 1 treatment ISO RGD PMID:23644946 RGD:401794573 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723 		JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,741...3,364,239 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992 		JBrowse link
G PPARGC1B PPARG coactivator 1 beta treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr 2:150,823,338...150,924,871
Ensembl chr 2:150,823,373...150,919,376 		JBrowse link
G RBP4 retinol binding protein 4 ISO protein:increased expression:blood serum (human) RGD PMID:29747616 RGD:329849113 NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765 		JBrowse link
G RPS12 ribosomal protein S12 ISO associated with Metabolic Syndrome X;mRNA:increased expression:liver RGD PMID:25294893 RGD:11039460 NCBI chr 1:30,920,804...30,923,392
Ensembl chr 1:30,920,808...30,923,658 		JBrowse link
G SCD stearoyl-CoA desaturase treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr14:111,461,560...111,478,033
Ensembl chr14:111,461,569...111,478,020 		JBrowse link
G SERPINF2 serpin family F member 2 ISO protein:increased expression:plasma RGD PMID:9207984 RGD:1625533 NCBI chr12:47,934,551...47,942,283
Ensembl chr12:47,933,864...47,942,285 		JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr 3:31,879,143...31,883,041
Ensembl chr 3:31,881,225...31,884,967 		JBrowse link
G SOCS3 suppressor of cytokine signaling 3 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr12:3,643,832...3,647,015
Ensembl chr12:3,643,929...3,647,009 		JBrowse link
G SOD2 superoxide dismutase 2 ISO associated with coronary artery disease;DNA:SNP: :rs4880 (human) RGD PMID:31396447 RGD:401827159 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
G SOD3 superoxide dismutase 3 ISO associated with coronary artery disease;DNA:SNP: :rs2536512, rs2855262 (human) RGD PMID:31396447 RGD:401827159 NCBI chr 8:18,796,633...18,802,156
Ensembl chr 8:18,796,637...18,802,152 		JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr12:60,733,967...60,750,951
Ensembl chr12:60,733,907...60,751,267 		JBrowse link
G TRIB1 tribbles pseudokinase 1 susceptibility ISO DNA:SNPs,haplotypes: (rs6982502) (human) RGD PMID:27599772 RGD:401794577 NCBI chr 4:14,289,739...14,298,119
Ensembl chr 4:14,289,751...14,297,663 		JBrowse link
G TRPM1 transient receptor potential cation channel subfamily M member 1 ISO DNA:SNP:intron:g.59080C>T (rs11070811) (human) RGD PMID:21439949 RGD:7175561 NCBI chr 1:143,718,295...143,856,968
Ensembl chr 1:143,709,864...143,855,984 		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 4:99,348,589...99,351,760
Ensembl chr 4:99,348,490...99,352,755 		JBrowse link
G VLDLR very low density lipoprotein receptor ISO associated with Kidney Failure, Chronic;mRNA, protein:decreased expression:adipose tissue, skeletal muscle RGD PMID:9507207 RGD:1625577 NCBI chr 1:219,178,501...219,210,332
Ensembl chr 1:219,173,507...219,210,343 		JBrowse link
G XBP1 X-box binding protein 1 treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr14:46,011,239...46,016,526
Ensembl chr14:46,008,377...46,016,526 		JBrowse link
HYPERTRIGLYCERIDEMIA 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA5 apolipoprotein A5 ISO ClinVar Annotator: match by term: Hypertriglyceridemia 1 ClinVar
OMIM		 PMID:11588264 PMID:12417524 PMID:12417525 PMID:12915450 PMID:18324930 More... NCBI chr 9:44,177,834...44,180,880
Ensembl chr 9:44,178,606...44,180,885 		JBrowse link
G CREB3L3 cAMP responsive element binding protein 3 like 3 ISO ClinVar Annotator: match by term: Hypertriglyceridemia 1 ClinVar PMID:21666694 PMID:25741868 PMID:26046366 PMID:28492532 PMID:31619059 More... NCBI chr 2:74,578,471...74,588,269
Ensembl chr 2:74,578,483...74,601,784 		JBrowse link
G LIPI lipase I ISO ClinVar Annotator: match by term: Hypertriglyceridemia 1 ClinVar PMID:12719377 PMID:25741868 PMID:28492532 NCBI chr13:179,128,549...179,180,612
Ensembl chr13:179,128,660...179,180,626 		JBrowse link
G RP1 RP1 axonemal microtubule associated ISO ClinVar Annotator: match by term: Hypertriglyceridemia 1 ClinVar PMID:12764676 PMID:20664799 PMID:25741868 PMID:28492532 NCBI chr 4:76,724,604...76,730,264
Ensembl chr 4:76,724,604...76,734,610 		JBrowse link
G ZPR1 ZPR1 zinc finger ISO ClinVar Annotator: match by term: Hypertriglyceridemia 1 ClinVar PMID:25741868 NCBI chr 9:44,167,422...44,178,137
Ensembl chr 9:44,167,423...44,177,435 		JBrowse link
HYPERTRIGLYCERIDEMIA 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CREB3L3 cAMP responsive element binding protein 3 like 3 ISO ClinVar Annotator: match by term: Hypertriglyceridemia 2 OMIM
ClinVar		 PMID:21666694 PMID:25741868 PMID:26046366 PMID:26427795 PMID:28492532 More... NCBI chr 2:74,578,471...74,588,269
Ensembl chr 2:74,578,483...74,601,784 		JBrowse link
Hypertriglyceridemia, Transient Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPD1 glycerol-3-phosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: GPD1-related condition | ClinVar Annotator: match by term: Hypertriglyceridemia, transient infantile OMIM
ClinVar		 PMID:22226083 PMID:24549054 PMID:25741868 PMID:27368975 PMID:28492532 More... NCBI chr 5:16,008,179...16,021,676
Ensembl chr 5:16,007,448...16,017,825 		JBrowse link
primary hypoalphalipoproteinemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: APOA1-related condition | ClinVar Annotator: match by term: Apolipoprotein A-I deficiency | ClinVar Annotator: match by term: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2 | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2, intermediate OMIM
ClinVar		 PMID:1898657 PMID:1901417 PMID:2108924 PMID:2123470 PMID:2506176 More... NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713 		JBrowse link
G APOA4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chr 9:44,201,587...44,204,072
Ensembl chr 9:44,201,508...44,204,206 		JBrowse link
G APOC3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chr 9:44,211,171...44,213,538
Ensembl chr 9:44,211,194...44,213,533 		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 susceptibility ISO DNA:missense mutation: p.G583C , 1757G>T (rat)
ClinVar Annotator: match by term: Sitosterolemia		 RGD
ClinVar		 PMID:9536098 PMID:11099417 PMID:11138003 PMID:11452359 PMID:11668628 More... RGD:1598659 NCBI chr 3:96,616,304...96,656,893
Ensembl chr 3:96,616,246...96,656,889 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Sitosterolemia ClinVar PMID:3706300 PMID:4360855 PMID:6110091 PMID:11099417 PMID:11138003 More... NCBI chr 3:96,596,975...96,616,224
Ensembl chr 3:96,596,531...96,616,229 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Sitosterolemia ClinVar PMID:9536098 PMID:11099417 PMID:11138003 PMID:11452359 PMID:11668628 More... NCBI chr 3:96,656,099...96,703,282
Ensembl chr 3:96,654,415...96,703,237 		JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Sitosterolemia ClinVar PMID:28492532 NCBI chr 3:96,474,510...96,590,706
Ensembl chr 3:96,474,549...96,595,143 		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: ABCG8-related condition | ClinVar Annotator: match by term: Sitosterolemia 1 ClinVar PMID:11138003 PMID:11668628 PMID:11893785 PMID:16029460 PMID:17228349 More... NCBI chr 3:96,616,304...96,656,893
Ensembl chr 3:96,616,246...96,656,889 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: ABCG8-related condition | ClinVar Annotator: match by term: Sitosterolemia 1 OMIM
ClinVar		 PMID:3706300 PMID:4360855 PMID:6110091 PMID:9536098 PMID:11099417 More... NCBI chr 3:96,596,975...96,616,224
Ensembl chr 3:96,596,531...96,616,229 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Sitosterolemia 1 ClinVar PMID:11138003 PMID:11668628 PMID:16029460 PMID:17228349 PMID:17976197 More... NCBI chr 3:96,656,099...96,703,282
Ensembl chr 3:96,654,415...96,703,237 		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: ABCG5-related condition | ClinVar Annotator: match by term: Sitosterolemia 2 OMIM
ClinVar		 PMID:11099417 PMID:11138003 PMID:11668628 PMID:11893785 PMID:11907139 More... NCBI chr 3:96,616,304...96,656,893
Ensembl chr 3:96,616,246...96,656,889 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: ABCG5-related condition | ClinVar Annotator: match by term: Sitosterolemia 2 ClinVar PMID:11893785 PMID:17632509 PMID:21039838 PMID:21274884 PMID:22898925 More... NCBI chr 3:96,596,975...96,616,224
Ensembl chr 3:96,596,531...96,616,229 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: ABCG5-related condition | ClinVar Annotator: match by term: Sitosterolemia 2 ClinVar PMID:11099417 PMID:11138003 PMID:11668628 PMID:11907139 PMID:15054092 More... NCBI chr 3:96,656,099...96,703,282
Ensembl chr 3:96,654,415...96,703,237 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15392
    Nutritional and Metabolic Diseases 7360
      disease of metabolism 7360
        lipid metabolism disorder 1714
          familial hyperlipidemia 269
            Hepatic Lipase Deficiency 1
            Hypercholesterolemia + 135
            Hyperlipoproteinemias + 88
            Hypertriglyceridemia + 80
            familial chylomicronemia syndrome + 6
            familial combined hyperlipidemia + 16
            glycogen storage disease IX + 30
            hyperlipoproteinemia type V 1
Path 2
Term Annotations click to browse term
  disease 15392
    Developmental Disease 13424
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12511
        genetic disease 12217
          inherited metabolic disorder 5824
            lipid metabolism disorder 1714
              Dyslipidemias 299
                familial hyperlipidemia 269
                  Hepatic Lipase Deficiency 1
                  Hypercholesterolemia + 135
                  Hyperlipoproteinemias + 88
                  Hypertriglyceridemia + 80
                  familial chylomicronemia syndrome + 6
                  familial combined hyperlipidemia + 16
                  glycogen storage disease IX + 30
                  hyperlipoproteinemia type V 1
paths to the root