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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:Dyslipidemias
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Accession:DOID:9003370 term browser browse the term
Definition:Abnormalities in the serum levels of LIPIDS, including overproduction or deficiency. Abnormal serum lipid profiles may include high total CHOLESTEROL, high TRIGLYCERIDES, low HIGH DENSITY LIPOPROTEIN CHOLESTEROL, and elevated LOW DENSITY LIPOPROTEIN CHOLESTEROL.
Synonyms:exact_synonym: Dyslipidemia;   Dyslipoproteinemia;   Dyslipoproteinemias
 primary_id: MESH:D050171


show annotations for term's descendants           Sort by:
Dyslipidemias 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyslipidemia		 CTD
ClinVar		 PMID:19060911 PMID:28696550 PMID:35042526 PMID:36991406 NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21890736 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Angptl4 angiopoietin-like 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17322881 NCBI chr 7:14,550,288...14,557,797
Ensembl chr 7:14,550,311...14,556,519 		JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: therapeutic CTD PMID:18230960 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyslipidemia		 CTD
ClinVar		 PMID:25037058 PMID:32853627 PMID:34862716 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Atp7b ATPase copper transporting beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303181 NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636 		JBrowse link
G Bcl3 BCL3, transcription coactivator ISO CTD Direct Evidence: marker/mechanism CTD PMID:29670124 NCBI chr 1:79,471,368...79,485,908
Ensembl chr 1:79,471,369...79,485,607 		JBrowse link
G Cyp2c6 cytochrome P450, family 2, subfamily C, polypeptide 6 treatment ISO DNA:SNP:CDS:c636G>A|c.681G>A, rs4986893|rs4244285 (human) RGD PMID:36601065 RGD:401850588 NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596 		JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19060911 NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536 		JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Isl1 ISL LIM homeobox 1 treatment ISO
IEP		 RGD PMID:32277945 PMID:32277945 RGD:243049251, RGD:243049251 NCBI chr 2:48,079,412...48,090,704
Ensembl chr 2:48,080,522...48,095,584 		JBrowse link
G Klf14 KLF transcription factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29632379 NCBI chr 4:59,554,011...59,556,933
Ensembl chr 4:59,554,011...59,556,933 		JBrowse link
G Ldlr low density lipoprotein receptor IMP
ISO		 ClinVar Annotator: match by term: Dyslipidemia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:20530721 PMID:36108984 PMID:27378433 RGD:12910104 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Ldlrem1 low density lipoprotein receptor; ZFN induced mutant 1 IMP RGD PMID:27378433 RGD:12910104
G Lep leptin IEP protein:altered expression: serum (rat) RGD PMID:29089335 RGD:21410183 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lepr leptin receptor ISO
IMP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20567778 PMID:29988851 PMID:26537785 RGD:12911216 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Leprem4Lizh leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh IMP RGD PMID:26537785 RGD:12911216
G Lipc lipase C, hepatic type ISO ClinVar Annotator: match by term: Dyslipidemia ClinVar NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952847 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
G Maco1 macoilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19060911 NCBI chr 5:147,012,416...147,075,265
Ensembl chr 5:147,012,867...147,075,001 		JBrowse link
G Mir222 microRNA 222 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34862716 NCBI chr  X:3,428,904...3,429,006
Ensembl chr  X:3,428,904...3,429,006 		JBrowse link
G Nadsyn1 NAD synthetase 1 susceptibility ISO DNA:SNP: :rs12785878 G>T(human) RGD PMID:24073860 RGD:13703112 NCBI chr 1:198,981,559...199,009,853
Ensembl chr 1:198,981,604...199,009,869 		JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29670124 NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360 		JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448 NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258 		JBrowse link
G Nr5a2 nuclear receptor subfamily 5, group A, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29515023 NCBI chr13:48,313,634...48,433,494
Ensembl chr13:48,316,301...48,433,326 		JBrowse link
G Pex11a peroxisomal biogenesis factor 11 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30585412 NCBI chr 1:133,680,091...133,687,172
Ensembl chr 1:133,680,091...133,687,172 		JBrowse link
G Pltp phospholipid transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952847 NCBI chr 3:153,574,825...153,592,647
Ensembl chr 3:153,574,825...153,592,647 		JBrowse link
G Pml PML nuclear body scaffold ISO CTD Direct Evidence: marker/mechanism CTD PMID:32929351 NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: therapeutic CTD PMID:16168052 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: therapeutic CTD PMID:16168052 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Rara retinoic acid receptor, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:32929351 NCBI chr10:83,883,490...83,928,932
Ensembl chr10:83,893,384...83,928,142 		JBrowse link
G Rbp4 retinol binding protein 4 disease_progression ISO protein:increased expression:blood plasma (human) RGD PMID:22426023 RGD:329853319 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399 		JBrowse link
G Tlr2 toll-like receptor 2 IGI RGD PMID:23295061 RGD:7241091 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tomm40 translocase of outer mitochondrial membrane 40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29670124 NCBI chr 1:79,358,781...79,370,882
Ensembl chr 1:79,358,786...79,370,915 		JBrowse link
G Vnn1 vanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17873875 NCBI chr 1:21,537,084...21,547,395
Ensembl chr 1:21,537,094...21,547,395 		JBrowse link
abetalipoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mttp microsomal triglyceride transfer protein ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Abetalipoproteinemia | ClinVar Annotator: match by term: Betalipoprotein deficiency disease | ClinVar Annotator: match by term: MTP DEFICIENCY | ClinVar Annotator: match by term: MTTP-related condition | ClinVar Annotator: match by term: Microsomal triglyceride transfer protein deficiency disease | ClinVar Annotator: match by term: Microsomal-triglyceride transfer protein deficiency
CTD Direct Evidence: marker/mechanism
DNA:insertion:cds:c.419-420insA (human)
DNA:mutations:cds:multiple (human)		 ClinVar
CTD
OMIM
RGD		 PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... RGD:1581045, RGD:1581043, RGD:1581044 NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Acanthocytosis ClinVar PMID:1696010 PMID:2527366 PMID:8343110 PMID:25741868 PMID:28492532 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
Abetalipoproteinemia Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy ClinVar PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2022742 PMID:11060345 PMID:19074352 PMID:20097930 PMID:23701270 More... NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583 		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 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		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 5:146,722,329...146,734,924
Ensembl chr 5:146,722,337...146,736,501 		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 5:146,427,682...146,447,346
Ensembl chr 5:146,427,683...146,446,942 		JBrowse link
G Cd52 CD52 molecule ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,319,789...146,321,348
Ensembl chr 5:146,319,969...146,321,348 		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 5:146,356,571...146,404,155
Ensembl chr 5:146,356,576...146,404,060 		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 5:146,447,495...146,458,332
Ensembl chr 5:146,447,497...146,458,212 		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 5:146,286,406...146,318,417
Ensembl chr 5:146,286,925...146,323,666 		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 5:146,198,359...146,224,479
Ensembl chr 5:146,197,457...146,224,454 		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 5:146,573,911...146,589,115
Ensembl chr 5:146,573,912...146,589,115 		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 5:146,471,048...146,474,019
Ensembl chr 5:146,471,049...146,474,056 		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 PMID:322919 PMID:484703 PMID:1000167 PMID:1057090 PMID:1301940 More... NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO
ISS		 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:603813		 OMIM
ClinVar
MouseDO		 PMID:4351242 PMID:7628519 PMID:9536098 PMID:11326085 PMID:11897284 More... NCBI chr 5:146,955,607...146,978,601
Ensembl chr 5:146,955,607...146,978,601 		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 5:146,227,119...146,244,122
Ensembl chr 5:146,227,119...146,244,122 		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 5:146,774,282...146,913,257
Ensembl chr 5:146,775,842...146,913,421 		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 5:146,736,927...146,746,891
Ensembl chr 5:146,736,927...146,746,784 		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 5:146,607,050...146,636,203
Ensembl chr 5:146,613,498...146,634,943 		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 5:146,709,159...146,720,577
Ensembl chr 5:146,708,900...146,720,673 		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 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688 		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 5:146,495,115...146,507,363
Ensembl chr 5:146,495,115...146,506,835 		JBrowse link
G Selenon selenoprotein N ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,748,638...146,764,656
Ensembl chr 5:146,748,652...146,763,059 		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 5:146,354,152...146,355,525
Ensembl chr 5:146,354,152...146,355,331 		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 5:146,559,733...146,571,957
Ensembl chr 5:146,559,733...146,571,956 		JBrowse link
G Stmn1 stathmin 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,680,757...146,687,154
Ensembl chr 5:146,681,436...146,687,154 		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 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322 		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 5:146,329,666...146,353,529
Ensembl chr 5:146,329,842...146,353,526 		JBrowse link
G Zfp593 zinc finger protein 593 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,462,670...146,464,998
Ensembl chr 5:146,462,670...146,465,198 		JBrowse link
G Zfp683 zinc finger protein 683 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,277,972...146,285,856
Ensembl chr 5:146,278,978...146,285,000 		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 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
chylomicron retention disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Chylomicron retention disease ClinVar PMID:25741868 PMID:27469900 NCBI chr17:39,845,952...40,031,781
Ensembl chr17:39,845,952...40,030,743 		JBrowse link
G Pitpna phosphatidylinositol transfer protein, alpha ISS OMIM:246700 MouseDO NCBI chr10:60,430,712...60,473,564
Ensembl chr10:60,430,748...60,471,342 		JBrowse link
G Sar1b secretion associated, Ras related GTPase 1B ISO
ISS		 OMIM:246700
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chylomicron retention disease | ClinVar Annotator: match by term: Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells		 OMIM
MouseDO
CTD
ClinVar		 PMID:10665502 PMID:12692552 PMID:17309654 PMID:17945526 PMID:19285442 More... NCBI chr10:36,024,415...36,054,069
Ensembl chr10:36,024,382...36,054,066 		JBrowse link
Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d 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: Dysbetalipoproteinemia due to defect in apolipoprotein e-d ClinVar PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 More... NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		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 susceptibility ISO OMIM NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816 		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:1628605 PMID:1782747 PMID:1971748 More... NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476 		JBrowse link
familial combined hyperlipidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add1 adducin 1 ISO DNA:polymorphism: :p.Gly460Trp (human) RGD PMID:11775124 RGD:1559299 NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182 		JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO RGD PMID:16336518 RGD:1601173 NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446 		JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938 		JBrowse link
G Apoa2 apolipoprotein A2 ISO protein:increased expression:plasma: RGD PMID:12738753 RGD:1300287 NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355 		JBrowse link
G Apob apolipoprotein B ISO protein:increased expression:plasma
ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb
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
RGD		 PMID:174884 PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 More... RGD:1601200 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Apoc3 apolipoprotein C3 no_association ISO DNA:haplotype, snp:3' utr:g.3175G>C (human) RGD PMID:15863838 PMID:9812922 PMID:9062353 RGD:1601225, RGD:5685676, RGD:5685674 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583 		JBrowse link
G Apoe apolipoprotein E ISO DNA:missense mutations, haplotype:cds:p.C112R, p.R158C (human) RGD PMID:17127808 PMID:12915220 RGD:1601231, RGD:1578481 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Faslg Fas ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:15063428 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO DNA:haplotype: :rs6031558,rs745975, rs3212198(human) RGD PMID:18340007 RGD:12904697 NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320 		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 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Lipc lipase C, hepatic type ISO RGD PMID:16338252 RGD:1580512 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1351946 PMID:1371284 PMID:1400331 PMID:1479292 PMID:1505655 More... NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma: RGD PMID:18417194 RGD:13207412 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Thbd thrombomodulin ISO RGD PMID:15262191 RGD:1601645 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Usf1 upstream transcription factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to		 CTD
ClinVar		 PMID:14991056 PMID:16076849 NCBI chr13:83,845,230...83,854,875
Ensembl chr13:83,822,035...83,854,885 		JBrowse link
G Vwf von Willebrand factor ISO protein:increased expression:plasma: RGD PMID:18417194 RGD:13207412 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		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 7:107,285,584...107,288,702
Ensembl chr 7:107,285,654...107,288,702 		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 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		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 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170 		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 8:19,838,579...19,856,560
Ensembl chr 8:19,838,580...19,856,482 		JBrowse link
G Apoa2 apolipoprotein A2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:12522687 NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355 		JBrowse link
G Apob apolipoprotein B ISO DNA:deletion:promoter, exon:
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 Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia 1 | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia		 ClinVar
RGD		 PMID:174884 PMID:221546 PMID:1360085 PMID:1424233 PMID:1454832 More... RGD:11527221 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Apoe apolipoprotein E IMP
ISO		 ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar
RGD		 PMID:29166645 RGD:150520219 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Apoeem1Ejt apolipoprotein E; TALEN induced mutant 1, Ejt IMP RGD PMID:29166645 RGD:150520219
G Apoeem1Sage apolipoprotein E; endonuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:29166645 RGD:150520219
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 8:19,807,733...19,817,321
Ensembl chr 8:19,807,766...19,817,321 		JBrowse link
G C8h19orf38 similar to human chromosome 19 open reading frame 38 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition ClinVar PMID:16250003 PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:20,061,494...20,095,705
Ensembl chr 8:20,078,639...20,095,696 		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 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689 		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 chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		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 8:19,677,400...19,690,761
Ensembl chr 8:19,671,938...19,690,809 		JBrowse link
G Cdkn2d cyclin dependent kinase inhibitor 2D ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,831,874...19,834,640
Ensembl chr 8:19,831,866...19,834,674 		JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: LDLR-related condition ClinVar PMID:16250003 PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157 		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 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		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 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552 		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 chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615 		JBrowse link
G Fdx2 ferredoxin 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,604,916...19,609,832
Ensembl chr 8:19,604,916...19,609,849 		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 chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735 		JBrowse link
G Gk glycerol kinase IDA RGD PMID:10642898 RGD:13702898 NCBI chr  X:50,162,089...50,238,707
Ensembl chr  X:50,163,123...50,238,631 		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 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Icam4 intercellular adhesion molecule 4, Landsteiner-Wiener blood group ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,566,075...19,567,171
Ensembl chr 8:19,566,075...19,567,171 		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 8:19,567,390...19,575,588
Ensembl chr 8:19,568,600...19,575,588 		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 8:19,922,409...19,960,495
Ensembl chr 8:19,922,460...19,960,350 		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 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862 		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 8:19,817,005...19,831,516
Ensembl chr 8:19,817,017...19,831,392 		JBrowse link
G Ldlr low density lipoprotein receptor ISO
ISS		 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
OMIM:143890
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1		 OMIM
ClinVar
MouseDO		 PMID:189940 PMID:200368 PMID:251034 PMID:268635 PMID:322919 More... NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 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 PMID:4351242 PMID:9536098 PMID:11326085 PMID:12016260 PMID:12464675 More... NCBI chr 5:146,955,607...146,978,601
Ensembl chr 5:146,955,607...146,978,601 		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 8:19,539,593...19,545,608
Ensembl chr 8:19,539,593...19,545,608 		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 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688 		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 8:19,690,816...19,753,538
Ensembl chr 8:19,703,290...19,751,961 		JBrowse link
G Pon2 paraoxonase 2 ISO DNA:missense mutation:cds:p.S311C (human) RGD PMID:16776623 RGD:1642625 NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248 		JBrowse link
G Ppp1r17 protein phosphatase 1, regulatory subunit 17 susceptibility ISO OMIM NCBI chr 4:85,213,595...85,230,607
Ensembl chr 4:85,213,887...85,230,603 		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 8:19,965,801...19,973,843
Ensembl chr 8:19,966,336...19,973,837 		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 8:19,610,464...19,629,188
Ensembl chr 8:19,610,466...19,629,152 		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 chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399 		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 8:19,503,276...19,514,169
Ensembl chr 8:19,502,627...19,523,574 		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 8:19,786,676...19,791,862
Ensembl chr 8:19,786,663...19,791,795 		JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:serum: RGD PMID:19004443 RGD:13207334 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		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 8:19,870,867...19,905,345
Ensembl chr 8:19,870,888...19,905,342 		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 Annotator: match by term: LDLR-related condition ClinVar PMID:1998642 PMID:16250003 PMID:20809525 PMID:21382890 PMID:25741868 More... NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Stap1 signal transducing adaptor family member 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:26036859 NCBI chr14:21,950,466...21,981,395
Ensembl chr14:21,952,496...21,981,245 		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 Annotator: match by term: LDLR-related condition ClinVar PMID:16250003 PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:20,145,264...20,148,233 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 8:20,059,937...20,063,567
Ensembl chr 8:20,059,892...20,063,677 		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 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044 		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 8:20,141,148...20,145,349
Ensembl chr 8:20,141,155...20,145,339 		JBrowse link
G Zglp1 zinc finger, GATA-like protein 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:20809525 PMID:21382890 PMID:28492532 PMID:28645073 NCBI chr 8:19,599,871...19,604,762
Ensembl chr 8:19,599,998...19,604,547 		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 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938 		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 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		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 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
Familial Hyperchylomicronemia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Hyperlipoproteinemia type 1 ClinVar PMID:1351946 PMID:1371284 PMID:1400331 PMID:1479292 PMID:1505655 More... NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
familial hyperlipidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 treatment IEP RGD PMID:17026988 PMID:23185768 RGD:1598533, RGD:21408557 NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170 		JBrowse link
G Abcb1a ATP binding cassette subfamily B member 1A susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP::2677G>T/A(rs2032582)(human)		 CTD
RGD		 PMID:24502637 PMID:26922556 RGD:11574565 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 susceptibility ISO sitosterolemia;DNA:missense mutation, nonsense mutation: :p.G574A, 1083G>A RGD PMID:12671028 RGD:1601097 NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912 		JBrowse link
G Ada adenosine deaminase treatment IEP RGD PMID:30679022 RGD:152998957 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing treatment IEP RGD PMID:24308182 RGD:8695929 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16027735 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512 		JBrowse link
G Adrb3 adrenoceptor beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16027735 NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552 		JBrowse link
G Alb albumin IAGP DNA:mutation RGD PMID:6468510 RGD:1601160 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Angptl4 angiopoietin-like 4 ISO RGD PMID:15837923 PMID:12401877 RGD:1625354, RGD:1578349 NCBI chr 7:14,550,288...14,557,797
Ensembl chr 7:14,550,311...14,556,519 		JBrowse link
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:17546600 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696 		JBrowse link
G Apob apolipoprotein B treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:17658632 PMID:7627691 PMID:15716585 RGD:1578419, RGD:14401726 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 IDA RGD PMID:11116209 RGD:1626277 NCBI chr 4:155,800,030...155,828,515
Ensembl chr 4:155,800,887...155,827,390 		JBrowse link
G Apoc2 apolipoprotein C2 susceptibility ISO RGD PMID:1782747 RGD:1599175 NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476 		JBrowse link
G Apoc3 apolipoprotein C3 treatment ISO RGD PMID:23542898 RGD:10054091 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583 		JBrowse link
G Apoe apolipoprotein E treatment ISO
IMP
IDA		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:11947894 PMID:12871831 PMID:20530721 PMID:20937366 PMID:15118671 More... RGD:1331525, RGD:150521536, RGD:13703129, RGD:6903856 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Bche butyrylcholinesterase ISO protein:increased expression:serum RGD PMID:15219807 RGD:1601321 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:19525846 RGD:11528561 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:21485068 RGD:5490594 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Crp C-reactive protein IEP protein:increased expression:serum: RGD PMID:24308182 RGD:8695929 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 IEP RGD PMID:23002367 RGD:14700877 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023 		JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:plasma RGD PMID:8914465 RGD:11060253 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668 		JBrowse link
G F7 coagulation factor VII IEP protein:increased expression:plasma (rat) RGD PMID:11776312 RGD:2312300 NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610 		JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:69995 NCBI chr 3:47,113,914...47,122,958
Ensembl chr 3:47,113,914...47,122,929 		JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 IEP mRNA:increased expression:gastrocnemius RGD PMID:16555472 RGD:1624365 NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471 		JBrowse link
G Gnb3 G protein subunit beta 3 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :825C>T (human) RGD PMID:17161225 RGD:2313205 NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173 		JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 IEP mRNA,protein:increased expression:islet cells:diabetic but not prediabetic Zucker Diabetic Fatty (fa/fa) rats RGD PMID:14697232 RGD:1625074 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687 		JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B ISO associated with advanced age and Diabetes Mellitus, Type 2 (MeSH:D003924) RGD PMID:15992611 RGD:1626649 NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240
Ensembl chr20:3,856,006...3,873,240 		JBrowse link
G Irf9 interferon regulatory factor 9 IEP associated with acute pancreatitis;protein:increased expression:kidney RGD PMID:32462510 RGD:125093744 NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236 		JBrowse link
G Irs1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10591678 NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122 		JBrowse link
G Itgam integrin subunit alpha M exacerbates ISO protein:increased expression:monocyte, macrophage (human)
protein:increased expression:granulocyte (human)		 RGD PMID:18788855 PMID:17869258 RGD:329901821, RGD:329901839 NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503 		JBrowse link
G Kl Klotho IDA RGD PMID:10892340 RGD:1581732 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080 		JBrowse link
G Lcat lecithin cholesterol acyltransferase IDA RGD PMID:12935429 RGD:1581787 NCBI chr19:33,834,748...33,838,214
Ensembl chr19:33,834,403...33,838,231 		JBrowse link
G Ldlr low density lipoprotein receptor ISO
IMP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:11947894 PMID:25619500 PMID:29459263 RGD:13703129 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Ldlrem1Dlli low density lipoprotein receptor; CRISPR/Cas9 induced mutant 1, Dlli IMP RGD PMID:29459263 RGD:13703129
G Lep leptin IEP mRNA:decreased expression:liver, adipose tissue (rat) RGD PMID:17671736 RGD:10053616 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25222487 PMID:33345901 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Lipc lipase C, hepatic type IDA
ISO		 protein:reduced expression:plasma (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:1883393 PMID:12935429 RGD:1581787 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20199424 NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899 		JBrowse link
G Lpl lipoprotein lipase treatment ISO
IDA		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:17658632 PMID:29931882 RGD:13794383 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
G Mir125a microRNA 125a ISO RGD PMID:31988048 RGD:21403676 NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710 		JBrowse link
G Mir126b microRNA 126b ameliorates ISO RGD PMID:24584117 RGD:401850548 NCBI chr 3:9,415,087...9,415,159 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO associated with Diabetes Mellitus, Type 2 RGD PMID:16490430 RGD:1642030 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mttp microsomal triglyceride transfer protein IEP RGD PMID:12191589 RGD:1625489 NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239 		JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21285402 NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP
ISO		 protein:increased phosphorylation:aorta
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11457755 PMID:17895290 RGD:2292129 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Plau plasminogen activator, urokinase ISO associated with Venous Thrombosis; protein:increased expression:wall of vein, thrombus (mouse) RGD PMID:22119245 RGD:6903200 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: therapeutic CTD PMID:21640707 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346 		JBrowse link
G Ppargc1b PPARG coactivator 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17932310 NCBI chr18:54,758,891...54,861,103
Ensembl chr18:54,758,902...54,861,194 		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 chr14:17,302,326...17,303,130
Ensembl chr14:17,302,326...17,303,130 		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 chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577 		JBrowse link
G Rgn regucalcin IMP RGD PMID:15375596 RGD:9590273 NCBI chr  X:1,619,030...1,634,456
Ensembl chr  X:1,619,032...1,634,450 		JBrowse link
G Sdc1 syndecan 1 IMP RGD PMID:17403197 RGD:1643125 NCBI chr 6:31,562,799...31,585,267
Ensembl chr 6:31,562,739...31,585,264 		JBrowse link
G Serpinc1 serpin family C member 1 IEP protein:increased expression:plasma RGD PMID:17283885 RGD:11035268 NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293 		JBrowse link
G Serpinf2 serpin family F member 2 IEP RGD PMID:2313941 RGD:1625536 NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243 		JBrowse link
G Shc1 SHC adaptor protein 1 IEP RGD PMID:15044008 RGD:1643177 NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536 		JBrowse link
G Slc27a1 solute carrier family 27 member 1 IEP protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle RGD PMID:15281014 RGD:1642794 NCBI chr16:18,278,984...18,300,173
Ensembl chr16:18,278,984...18,296,063 		JBrowse link
G Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 IEP mRNA:decreased expression:thoracic aorta RGD PMID:24615205 RGD:9586357 NCBI chr 7:130,829,783...130,840,323
Ensembl chr 7:130,829,768...130,840,323 		JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO DNA:Missense mutations, haplotype:CDS:multiple (mouse) RGD PMID:22022387 RGD:126925202 NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 treatment ISO RGD PMID:29197188 RGD:401842366 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650 		JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:increased expression:plasma: RGD PMID:8914465 RGD:11060253 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment IDA
IEP		 associated with Chronic Kidney Failure;mRNA:increased expression:kidney
associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney cortex		 RGD PMID:16834981 PMID:19001732 RGD:1601559, RGD:2306735 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IEP RGD PMID:18159007 RGD:2313110 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958 		JBrowse link
G Vldlr very low density lipoprotein receptor ISO RGD PMID:10985956 RGD:1625570 NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920 		JBrowse link
familial hypobetalipoproteinemia 1 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: APOB-related condition | ClinVar Annotator: match by term: APOB-related disorder | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic
ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:174884 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1466657 More... NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
familial hypobetalipoproteinemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angptl3 angiopoietin-like 3 ISO ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 More... NCBI chr 5:113,703,007...113,710,044
Ensembl chr 5:113,703,012...113,709,957 		JBrowse link
G Apob apolipoprotein B ISS OMIM:605019 MouseDO NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Dock7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 ClinVar PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 More... NCBI chr 5:113,599,371...113,782,871
Ensembl chr 5:113,600,198...113,782,813 		JBrowse link
Familial Hypobetalipoproteinemia, Apolipoprotein B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:2567736 PMID:2843815 PMID:3473077 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Apolipoprotein B deficiency ClinVar PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LMF1-related condition | ClinVar Annotator: match by term: Lipase deficiency, combined		 OMIM
CTD
ClinVar		 PMID:17994020 PMID:19820022 PMID:22135386 PMID:22239554 PMID:24909692 More... NCBI chr10:14,597,726...14,684,071
Ensembl chr10:14,597,594...14,684,119 		JBrowse link
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Lipase deficiency, combined ClinVar PMID:25741868 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
familial lipoprotein lipase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 ISO ClinVar Annotator: match by term: Hyperlipoproteinemia, type I ClinVar PMID:25741868 NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816 		JBrowse link
G Apoc2 apolipoprotein C2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: C-II ANAPOLIPOPROTEINEMIA		 CTD
ClinVar		 PMID:213719 PMID:1349286 PMID:1628605 PMID:1782747 PMID:1971748 More... NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476 		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 7:107,285,584...107,288,702
Ensembl chr 7:107,285,654...107,288,702 		JBrowse link
G Lpl lipoprotein lipase ISO
ISS		 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:238600
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.D156G (human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1351946 PMID:1371284 PMID:1400331 PMID:1479292 PMID:1505655 More... RGD:1580533, RGD:1556752, RGD:1302536 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		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 1:182,184,362...182,197,124
Ensembl chr 1:182,184,650...182,197,124 		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 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		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:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609 		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:35,257,228...35,328,883
Ensembl chr  X:35,263,576...35,328,816 		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:33,401,122...33,465,427 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:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582 		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:35,498,698...35,513,402
Ensembl chr  X:35,498,517...35,513,335 		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:34,713,150...34,859,054
Ensembl chr  X:34,713,175...34,858,807 		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:35,372,453...35,488,073
Ensembl chr  X:35,372,700...35,488,091 		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:32,553,300...32,892,961
Ensembl chr  X:32,552,026...32,889,992 		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:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO
IAGP		 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
DNA:mutations:multiple
DNA:missense mutations:multiple 		OMIM
ClinVar
RGD		 PMID:2303074 PMID:5306139 PMID:7711737 PMID:7847371 PMID:7959740 More... RGD:26884355, RGD:26884354, RGD:26884353 NCBI chr  X:34,170,959...34,293,498
Ensembl chr  X:34,171,323...34,293,466 		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:33,994,503...34,151,704
Ensembl chr  X:34,021,350...34,151,701 		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:32,948,656...33,011,222
Ensembl chr  X:32,948,656...33,011,264 		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:35,517,306...35,623,296
Ensembl chr  X:35,517,306...35,623,207 		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:33,962,440...33,992,203
Ensembl chr  X:33,963,657...33,992,115 		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:32,893,100...32,912,686
Ensembl chr  X:32,894,327...32,911,366 		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:33,523,179...33,677,672
Ensembl chr  X:33,524,530...33,652,742 		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:34,877,862...35,223,013
Ensembl chr  X:34,877,866...35,222,747 		JBrowse link
glycogen storage disease IXB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc12 ATP binding cassette subfamily C member 12 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:20,549,298...20,621,991
Ensembl chr19:20,549,405...20,620,734 		JBrowse link
G C19h16orf87 similar to human chromosome 16 open reading frame 87 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:21,626,390...21,653,869
Ensembl chr19:21,626,914...21,654,255 		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 chr19:21,497,792...21,516,904
Ensembl chr19:21,497,729...21,516,901 		JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610 		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 chr19:21,210,697...21,331,285
Ensembl chr19:21,210,733...21,331,279 		JBrowse link
G Mylk3 myosin light chain kinase 3 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:21,685,085...21,743,587
Ensembl chr19:21,691,929...21,742,954 		JBrowse link
G Neto2 neuropilin and tolloid like 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:21,344,299...21,415,524
Ensembl chr19:21,344,289...21,417,023 		JBrowse link
G Orc6 origin recognition complex, subunit 6 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:21,757,867...21,765,638
Ensembl chr19:21,757,866...21,765,662 		JBrowse link
G Phkb phosphorylase kinase regulatory subunit beta ISO
ISS		 ClinVar Annotator: match by term: Glycogen storage disease IXb | ClinVar Annotator: match by term: PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE
OMIM:261750
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9215682 PMID:9326319 PMID:9402963 PMID:9536098 PMID:12825073 More... NCBI chr19:21,013,719...21,210,671
Ensembl chr19:21,025,733...21,210,633 		JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:21,765,771...21,801,620
Ensembl chr19:21,765,749...21,801,618 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2558039 PMID:6962066 PMID:7562285 PMID:8896567 PMID:9384616 More... NCBI chr 1:182,184,362...182,197,124
Ensembl chr 1:182,184,650...182,197,124 		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
ISS		 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:300559
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2252364 PMID:7874115 PMID:8145916 PMID:9536098 PMID:9731190 More... NCBI chr  X:67,601,302...67,738,504
Ensembl chr  X:67,601,302...67,738,455 		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:34,170,959...34,293,498
Ensembl chr  X:34,171,323...34,293,466 		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 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		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 chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		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 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346 		JBrowse link
Hypercholesterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 ISO
IEP		 mRNA:increased expression:liver, jejunum (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22022523 PMID:15118671 PMID:24619822 RGD:1331525, RGD:19165129 NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170 		JBrowse link
G Abcb11 ATP binding cassette subfamily B member 11 ISO RGD PMID:21726512 RGD:14688050 NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730 		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 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563 		JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO DNA:polymorphism: :p.M429V RGD PMID:15816807 RGD:1601094 NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912 		JBrowse link
G Acat2 acetyl-CoA acetyltransferase 2 ISO RGD PMID:11100118 RGD:1556516 NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821 		JBrowse link
G Alpl alkaline phosphatase, biomineralization associated IEP RGD PMID:17403193 RGD:1601171 NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446 		JBrowse link
G Apoa1 apolipoprotein A1 ISO DNA:polymorphisms: :-75G>A, 83C>T (human) RGD PMID:16309370 RGD:1601184 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Apob apolipoprotein B IEP
ISO		 ClinVar Annotator: match by term: Hypercholesterolemia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1600334 PMID:20657596 PMID:22923420 PMID:24033266 PMID:25647241 More... RGD:1599167 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Apoc2 apolipoprotein C2 susceptibility ISO associated with Hypertriglyceridemia;DNA:missense mutation: :p.K38Q (human) RGD PMID:8490626 RGD:1601207 NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476 		JBrowse link
G Apoc3 apolipoprotein C3 ISO RGD PMID:2879788 RGD:1578447 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583 		JBrowse link
G Apoe apolipoprotein E susceptibility
severity		 ISO
IMP		 DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human)
ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar Annotator: match by term: Hypercholesterolemia
CTD Direct Evidence: marker/mechanism
associated with Kidney Failure, Chronic; DNA:missense mutations, haplotype:cds:p.C130R, p.C176R (human)		 ClinVar
CTD
RGD		 PMID:2992507 PMID:3243553 PMID:6300187 PMID:9649566 PMID:11397713 More... RGD:1601229, RGD:13703132, RGD:6903838, RGD:734968 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Atm ATM serine/threonine kinase susceptibility ISO RGD PMID:15863839 RGD:1601249 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Casp3 caspase 3 IEP RGD PMID:24484682 RGD:13782354 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Casp9 caspase 9 IEP RGD PMID:24484682 RGD:13782354 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626 		JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:10946357 RGD:11040931 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cd40 CD40 molecule treatment IEP
IDA		 protein:increased expression:serum RGD PMID:21574786 PMID:21574786 RGD:7248754, RGD:7248754 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand treatment ISO
IEP
IDA		 associated with Diabetes Mellitus, Type 2
protein:increased expression:platelet (rat)		 RGD PMID:18787388 PMID:21574786 PMID:26950185 RGD:7248428, RGD:7248754, RGD:11344960 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Ces1d carboxylesterase 1D ISO CTD Direct Evidence: therapeutic CTD PMID:12773168 NCBI chr19:13,873,490...13,912,035
Ensembl chr19:13,796,623...13,912,035 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21852083 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Cpb2 carboxypeptidase B2 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:16123492 RGD:2313641 NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556 		JBrowse link
G Csf1 colony stimulating factor 1 IEP RGD PMID:9158105 RGD:1641957 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704 		JBrowse link
G Ctf1 cardiotrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21803294 NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335 		JBrowse link
G Cyp51 cytochrome P450, family 51 IEP mRNA:decreased expression:liver RGD PMID:16472823 RGD:13782194 NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410 		JBrowse link
G Cyp7a1 cytochrome P450 family 7 subfamily A member 1 ISO
IEP		 CTD Direct Evidence: therapeutic
mRNA:decreased expression:liver		 CTD
RGD		 PMID:8245718 PMID:16472823 RGD:13782194 NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15486036 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Eng endoglin treatment ISO protein:increased expression, aortic root, aortic arch, endothelium (mouse) RGD PMID:17901886 PMID:17901886 RGD:7257552, RGD:7257552 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO associated with Carcinoma, Ductal, Breast RGD PMID:15491965 RGD:8655598 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment IEP RGD PMID:21966115 RGD:10449170 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gpr17 G protein-coupled receptor 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34144038 NCBI chr18:23,576,232...23,583,153
Ensembl chr18:23,577,242...23,582,966 		JBrowse link
G Gsr glutathione-disulfide reductase treatment IEP
IDA		 RGD PMID:24770475 PMID:24120393 RGD:10401874, RGD:10401896 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase treatment ISO Ldlr knockout mouse RGD PMID:31589306 RGD:243065123 NCBI chr 6:10,845,235...10,864,863
Ensembl chr 6:10,845,771...10,864,877 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO associated with Porphyria, Acute Intermittent (MeSH:D017118); protein:reduced activity:erythrocytes RGD PMID:2809566 RGD:2301684 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO
IEP
IDA		 mRNA:decreased expression:liver (rat)
mRNA:increased expression:liver
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:8593127 PMID:1611649 PMID:24619822 PMID:25168180 PMID:17250646 RGD:5508480, RGD:19165129, RGD:13782271, RGD:5508696 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha resistance ISO Finnish and Mexican populations; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1B (2-1-1) RGD PMID:16804065 RGD:1601642 NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320 		JBrowse link
G Hp haptoglobin ISO protein:increased expression:plasma RGD PMID:16944942 RGD:1626342 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:12921987 RGD:1624216 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:17330503 RGD:1626623 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Itgam integrin subunit alpha M ISO protein:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:18676132 RGD:329853761 NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503 		JBrowse link
G Itih4 inter-alpha-trypsin inhibitor heavy chain 4 susceptibility ISO ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to ClinVar
RGD		 PMID:14661079 PMID:14661079 RGD:1627650 NCBI chr16:6,080,539...6,095,710
Ensembl chr16:6,080,539...6,095,708 		JBrowse link
G Ldlr low density lipoprotein receptor IEP
ISO
IMP		 ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar Annotator: match by term: Hypercholesterolemia
protein:decreased expression: liver
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:322919 PMID:484703 PMID:503269 PMID:1301940 PMID:1301956 More... RGD:1581819, RGD:21410185, RGD:12910104, RGD:12910100 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Ldlrem1 low density lipoprotein receptor; ZFN induced mutant 1 IMP RGD PMID:27378433 RGD:12910104
G Ldlrem1Sage low density lipoprotein receptor; ZFN induced mutant 1, Sage IMP RGD PMID:28469073 RGD:12910100
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO RGD PMID:15599766 RGD:1626107 NCBI chr 5:146,955,607...146,978,601
Ensembl chr 5:146,955,607...146,978,601 		JBrowse link
G Lep leptin ISO
IMP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:25086370 PMID:22948215 RGD:12904911 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lepem1Sage leptin; zinc finger nuclease induced mutant1, Sage IMP RGD PMID:22948215 RGD:12904911
G Lipc lipase C, hepatic type ISO
IDA		 associated with Diabetes Mellitus; protein:decreased expression:plasma (human)
protein, mRNA:decreased expression:plasma, liver (rat)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:liver (mouse)		 RGD PMID:6340423 PMID:7830494 PMID:11279518 RGD:2308850, RGD:2308793, RGD:2308841 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		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 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21852083 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
G Lss lanosterol synthase ISO mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762 		JBrowse link
G Mif macrophage migration inhibitory factor IEP mRNA:increased expression:glomerulus RGD PMID:9158105 RGD:1641957 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504 		JBrowse link
G Mir223 microRNA 223 ISO RGD PMID:25246565 RGD:21408582 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996 		JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271 NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971 		JBrowse link
G Mylk myosin light chain kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21052790 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14871415 NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646 		JBrowse link
G Nox1 NADPH oxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20832062 NCBI chr  X:97,279,058...97,332,291
Ensembl chr  X:97,279,056...97,302,236 		JBrowse link
G Npc1l1 NPC1 like intracellular cholesterol transporter 1 ISO RGD PMID:15671032 RGD:1642184 NCBI chr14:81,071,448...81,091,113
Ensembl chr14:81,071,451...81,091,113 		JBrowse link
G Npy neuropeptide Y ISO associated with Obesity;DNA:missense mutation:cds:p.L7P (human) RGD PMID:11689216 RGD:1580177 NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495 		JBrowse link
G Nr4a1 nuclear receptor subfamily 4, group A, member 1 IMP compared to FHH RGD PMID:24722447 RGD:12910103 NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297 		JBrowse link
G Nr4a1m1Mcwi nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin IMP compared to FHH RGD PMID:24722447 RGD:12910103
G Nr4a3 nuclear receptor subfamily 4, group A, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16005304 NCBI chr 5:62,361,588...62,401,489
Ensembl chr 5:62,361,822...62,402,733 		JBrowse link
G Pappa pappalysin ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:15531533 PMID:14661010 RGD:1642328, RGD:1642329 NCBI chr 5:78,497,660...78,735,873
Ensembl chr 5:78,498,300...78,730,666 		JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypercholesterolaemia		 CTD
ClinVar		 PMID:12730697 PMID:16183066 PMID:16571601 PMID:16912035 PMID:17380167 More... NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688 		JBrowse link
G Pde1c phosphodiesterase 1C ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar NCBI chr 4:85,300,858...85,777,948
Ensembl chr 4:85,300,858...85,863,219 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16229851 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Ppp1r17 protein phosphatase 1, regulatory subunit 17 ISO ClinVar Annotator: match by term: Hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to ClinVar PMID:12955585 NCBI chr 4:85,213,595...85,230,607
Ensembl chr 4:85,213,887...85,230,603 		JBrowse link
G Scap SREBF chaperone IEP protein:increased expression:liver RGD PMID:16741953 RGD:1581819 NCBI chr 8:110,306,026...110,360,677
Ensembl chr 8:110,306,031...110,360,666 		JBrowse link
G Scarb1 scavenger receptor class B, member 1 ISO RGD PMID:15967843 RGD:1580004 NCBI chr12:31,296,143...31,362,649
Ensembl chr12:31,296,156...31,362,647 		JBrowse link
G Sele selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741 		JBrowse link
G Serpinf2 serpin family F member 2 ISO protein:decreased expression:serum RGD PMID:1384011 RGD:1625534 NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243 		JBrowse link
G Soat2 sterol O-acyltransferase 2 susceptibility ISO RGD PMID:11100118 RGD:1556516 NCBI chr 7:133,281,818...133,294,915
Ensembl chr 7:133,281,818...133,294,915 		JBrowse link
G Sqle squalene epoxidase ISO mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271 NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 IEP protein:altered localization:liver RGD PMID:16741953 RGD:1581819 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650 		JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO
IEP		 ClinVar Annotator: match by term: Hypercholesterolemia
protein:altered localization:liver
DNA:mutations:exon:p.V623M, p.R645Q (human)
DNA:polymorphism: :1784G>C (human)		 ClinVar
RGD		 PMID:18095312 PMID:16741953 PMID:11950857 PMID:15547298 RGD:2308813, RGD:1581819, RGD:1625197, RGD:1581415 NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO associated with Carcinoma, Ductal, Breast RGD PMID:15491965 RGD:8655598 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vldlr very low density lipoprotein receptor ISO RGD PMID:8636110 RGD:1625573 NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920 		JBrowse link
Hypercholesterolemia, Autosomal Dominant, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 ClinVar PMID:25741868 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		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 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:800756 PMID:2120714 PMID:2246507 PMID:9536098 PMID:10357843 More... NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688 		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 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
Hyperlipidemia, Combined, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usf1 upstream transcription factor 1 susceptibility ISO OMIM NCBI chr13:83,845,230...83,854,875
Ensembl chr13:83,822,035...83,854,885 		JBrowse link
Hyperlipoproteinemia Type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia		 CTD
ClinVar		 PMID:16030523 PMID:19743957 PMID:20800056 PMID:24497850 PMID:25215231 More... NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170 		JBrowse link
G Adrb2 adrenoceptor beta 2 ISO DNA:polymorphism: :p.Q27E RGD PMID:17020471 RGD:1601121 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512 		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 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938 		JBrowse link
G Apoa1 apolipoprotein A1 ISO DNA:polymorphism:promoter:-75G>A (human) RGD PMID:9699897 RGD:1601186 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Apoa2 apolipoprotein A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12522687 NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355 		JBrowse link
G Apoa4 apolipoprotein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Apob apolipoprotein B ISO 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 IIb
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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:174884 PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 More... RGD:1626106, RGD:1578415, RGD:1580998 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Apoc3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583 		JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		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 chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
G Ldlr low density lipoprotein receptor ISO DNA:deletion: :p.G197del (human)
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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:189940 PMID:200368 PMID:251034 PMID:268635 PMID:322919 More... RGD:5490248, RGD:1581824, RGD:1331525 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:17380167 RGD:1626106 NCBI chr 5:146,955,607...146,978,601
Ensembl chr 5:146,955,607...146,978,601 		JBrowse link
G Lipc lipase C, hepatic type ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:16280123 RGD:1642031 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mttp microsomal triglyceride transfer protein ISO RGD PMID:17215532 RGD:1625482 NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239 		JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 severity ISO ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B
DNA:missense mutation:cds:p.D374Y (human)
DNA:missense mutations:cds:p.S127R, p.F216L (human)		 ClinVar
RGD		 PMID:10357843 PMID:10764678 PMID:11668641 PMID:11941481 PMID:12175777 More... RGD:1626106, RGD:1581002, RGD:1581001, RGD:1580998 NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 PMID:16238680 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Pon2 paraoxonase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248 		JBrowse link
hyperlipoproteinemia type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16143024 NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816 		JBrowse link
G Apoc3 apolipoprotein C3 ISO RGD PMID:2879788 RGD:1578447 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583 		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)
DNA:missense mutation:cds:p.R158C (human)
DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:1356443 PMID:1360898 PMID:1361196 PMID:1713245 PMID:2101409 More... RGD:1331525, RGD:14401584, RGD:12880367 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		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 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:146,955,607...146,978,601
Ensembl chr 5:146,955,607...146,978,601 		JBrowse link
hyperlipoproteinemia type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816 		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 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial type 5 hyperlipoproteinemia		 CTD
OMIM
ClinVar		 PMID:12417524 PMID:12417525 PMID:16200213 PMID:16806135 PMID:18324930 More... NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816 		JBrowse link
Hyperlipoproteinemias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO GAD PMID:15118671 RGD:1331525 NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464 		JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:blood plasma (human) RGD PMID:226830 RGD:5685673 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Apoa5 apolipoprotein A5 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C, p.S19W (human) RGD PMID:18468520 RGD:2313317 NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816 		JBrowse link
G Apoc2 apolipoprotein C2 susceptibility ISO protein:increased expression:serum
DNA:missense mutation: :p.L72P (human)		 RGD PMID:1468157 PMID:16153625 RGD:1601208, RGD:1601204 NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476 		JBrowse link
G Apoc3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2022742 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583 		JBrowse link
G Apoh apolipoprotein H ISO RGD PMID:6613192 RGD:2313992 NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329 		JBrowse link
G Hnf1a HNF1 homeobox A susceptibility ISO DNA:polymorphism:cd: p.I27L (human) RGD PMID:12788852 RGD:329901805 NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104 		JBrowse link
G Lipc lipase C, hepatic type IDA
ISO		 associated with Nephrosis; protein:decreased expression:plasma (rat)
associated with Obesity and Diabetes; DNA:transition:promoter:-514C>T (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18160998 PMID:6480830 PMID:15941898 PMID:11427226 RGD:2308798, RGD:2308829, RGD:2308834 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		JBrowse link
G Pon1 paraoxonase 1 treatment IDA
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15324535 PMID:11015468 PMID:15324535 RGD:731237, RGD:8547684 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:10828087 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346 		JBrowse link
G Serpinf2 serpin family F member 2 ISO RGD PMID:6121140 RGD:1625537 NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243 		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 IEP RGD PMID:26394137 RGD:329955565 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457 		JBrowse link
G Acacb acetyl-CoA carboxylase beta treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655 		JBrowse link
G Acot1 acyl-CoA thioesterase 1 treatment IDA RGD PMID:23994635 RGD:13831127 NCBI chr 6:103,636,173...103,644,167
Ensembl chr 6:103,636,041...103,644,163 		JBrowse link
G Acp1 acid phosphatase 1 ISO associated with Obesity RGD PMID:12409270 RGD:1625288 NCBI chr 6:47,506,380...47,522,021
Ensembl chr 6:47,506,380...47,522,021 		JBrowse link
G Ada adenosine deaminase treatment IEP RGD PMID:30280312 RGD:152995395 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with HIV Infections RGD PMID:21595566 RGD:8694463 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Adrb2 adrenoceptor beta 2 ISO GAD PMID:15118671 RGD:1331525 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512 		JBrowse link
G Ahr aryl hydrocarbon receptor treatment IEP RGD PMID:23644946 RGD:401794573 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Ahsg alpha-2-HS-glycoprotein ISO protein:increased expression:serum RGD PMID:19228823 RGD:2313809 NCBI chr11:78,121,388...78,127,998
Ensembl chr11:78,117,918...78,145,999 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32045588 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Angptl3 angiopoietin-like 3 ISO RGD PMID:12672813 RGD:1578347 NCBI chr 5:113,703,007...113,710,044
Ensembl chr 5:113,703,012...113,709,957 		JBrowse link
G Angptl4 angiopoietin-like 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28842503 NCBI chr 7:14,550,288...14,557,797
Ensembl chr 7:14,550,311...14,556,519 		JBrowse link
G Apoa1 apolipoprotein A1 no_association
treatment		 ISO
IEP		 DNA:polymorphism:promoter:-75G>A RGD PMID:7910586 PMID:23644946 RGD:1601187, RGD:401794573 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Apoa2 apolipoprotein A2 ISO DNA:polymorphism RGD PMID:9489233 RGD:1601190 NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355 		JBrowse link
G Apoa4 apolipoprotein A4 ISO human gene in mouse model RGD PMID:2167514 RGD:5685672 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Apoa5 apolipoprotein A5 IEP
ISO		 ClinVar Annotator: match by term: Hypertriglyceridemia
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C (human)		 ClinVar
CTD
RGD		 PMID:18324930 PMID:19447388 PMID:20657596 PMID:23151256 PMID:23307945 More... RGD:2313328, RGD:1578414, RGD:2313317 NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816 		JBrowse link
G Apob apolipoprotein B IEP
ISO		 protein:increased expression:plasma (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20657596 PMID:8121310 RGD:11353966 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Apoc1 apolipoprotein C1 ISO protein:increased expression:plasma RGD PMID:3757210 RGD:2313953 NCBI chr 1:79,347,057...79,350,340
Ensembl chr 1:79,346,136...79,350,375 		JBrowse link
G Apoc2 apolipoprotein C2 susceptibility ISO RGD PMID:3944267 PMID:7590197 RGD:1601214, RGD:1601205 NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476 		JBrowse link
G Apoc3 apolipoprotein C3 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent or Coronary Disease;DNA:polymorphism RGD PMID:7705829 PMID:15715433 RGD:1578444, RGD:2306767 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO
IMP		 associated with Metabolic Syndrome X; DNA:missense mutations:cds:p.C112R, p.R158C (human) RGD
GAD		 PMID:15713714 PMID:28808185 PMID:15118671 RGD:1601235, RGD:13703132, RGD:1331525 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Bche butyrylcholinesterase ISO associated with diabetes mellitus
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23000450 PMID:8149699 RGD:1601335 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Cela2a chymotrypsin like elastase 2A ISO ClinVar Annotator: match by term: Hypertriglyceridemia ClinVar PMID:25741868 PMID:31358993 NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO associated with Pancreatitis;DNA:missense mutation, haplotype: :p.I556V (human) RGD PMID:17981921 RGD:11566035 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: therapeutic CTD PMID:11893366 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 treatment IEP RGD PMID:23644946 RGD:401794573 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 treatment ISO RGD PMID:18183944 RGD:10401058 NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299 		JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428 		JBrowse link
G F7 coagulation factor VII ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) RGD PMID:19329212 RGD:2312379 NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610 		JBrowse link
G Fabp2 fatty acid binding protein 2 ISO associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.A54T (human) RGD PMID:16919542 PMID:10999802 RGD:1626401, RGD:1300313 NCBI chr 2:211,040,032...211,044,089
Ensembl chr 2:211,040,032...211,044,089 		JBrowse link
G Fasn fatty acid synthase treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment IEP RGD PMID:22947172 RGD:10449176 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gckr glucokinase regulator susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs,haplotypes: (rs780094) (human)
ClinVar Annotator: match by term: Hypertriglyceridemia		 CTD
ClinVar
RGD		 PMID:20657596 PMID:22182842 PMID:25741868 PMID:28492532 PMID:27599772 RGD:401794577 NCBI chr 6:25,044,592...25,075,834
Ensembl chr 6:25,045,100...25,075,654 		JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO RGD PMID:11118009 RGD:1625423 NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471 		JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639 		JBrowse link
G Gpr55 G protein-coupled receptor 55 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30148676 NCBI chr 9:86,584,906...86,640,601
Ensembl chr 9:86,590,885...86,640,613 		JBrowse link
G Gpx3 glutathione peroxidase 3 ISO associated with coronary artery disease;DNA:SNP: :rs3828599 (human) RGD PMID:31396447 RGD:401827159 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO RGD PMID:16804065 RGD:1601642 NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320 		JBrowse link
G Il6st interleukin 6 cytokine family signal transducer IDA RGD PMID:8843746 RGD:1626687 NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Insig1 insulin induced gene 1 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chr 4:7,315,494...7,323,972
Ensembl chr 4:7,315,495...7,323,952 		JBrowse link
G Insig2 insulin induced gene 2 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chr13:32,472,390...32,500,139
Ensembl chr13:32,473,742...32,494,923 		JBrowse link
G Lamc1 laminin subunit gamma 1 susceptibility ISO DNA:SNPs,haplotypes: (rs10911205) (human) RGD PMID:27599772 RGD:401794577 NCBI chr13:65,374,372...65,501,492
Ensembl chr13:65,374,372...65,501,492 		JBrowse link
G Lcat lecithin cholesterol acyltransferase ISO RGD PMID:14668345 RGD:1581782 NCBI chr19:33,834,748...33,838,214
Ensembl chr19:33,834,403...33,838,231 		JBrowse link
G Ldlr low density lipoprotein receptor IMP RGD PMID:28469073 PMID:27378433 RGD:12910100, RGD:12910104 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Ldlrem1 low density lipoprotein receptor; ZFN induced mutant 1 IMP RGD PMID:27378433 RGD:12910104
G Ldlrem1Sage low density lipoprotein receptor; ZFN induced mutant 1, Sage IMP RGD PMID:28469073 RGD:12910100
G Lep leptin IMP RGD PMID:22948215 RGD:12904911 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lepem1Sage leptin; zinc finger nuclease induced mutant1, Sage IMP RGD PMID:22948215 RGD:12904911
G Lipc lipase C, hepatic type ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human) RGD PMID:187516 RGD:2308846 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		JBrowse link
G Lipe lipase E, hormone sensitive type IDA RGD PMID:11016888 RGD:2313581 NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310 		JBrowse link
G Lipi lipase I susceptibility ISO DNA:polymorphism: :p.C55Y RGD PMID:12719377 RGD:1625450 NCBI chr11:14,189,323...14,228,992
Ensembl chr11:14,189,323...14,228,985 		JBrowse link
G Lmf1 lipase maturation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17994020 NCBI chr10:14,597,726...14,684,071
Ensembl chr10:14,597,594...14,684,119 		JBrowse link
G Lpl lipoprotein lipase susceptibility IDA
ISO		 ClinVar Annotator: match by term: Hypertriglyceridemia
CTD Direct Evidence: marker/mechanism|therapeutic		 ClinVar
CTD
RGD		 PMID:8147947 PMID:20657596 PMID:25741868 PMID:11016888 PMID:17848837 More... RGD:2313581, RGD:2313305, RGD:1580533 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
G Lrp1b LDL receptor related protein 1B treatment HDA RGD PMID:30905023 RGD:151665141 NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505 		JBrowse link
G Lta lymphotoxin alpha susceptibility
no_association		 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent
DNA:polymorphism		 RGD PMID:7783649 PMID:9245742 RGD:1625036, RGD:1625035 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:32045588 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Mlxipl MLX interacting protein-like treatment
susceptibility		 IEP
ISO		 DNA:SNPs,haplotypes: (rs17145738) (human) RGD PMID:26394137 PMID:27599772 RGD:329955565, RGD:401794577 NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112 		JBrowse link
G Mlycd malonyl-CoA decarboxylase treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793 		JBrowse link
G Mtor mechanistic target of rapamycin kinase IMP associated with Insulin Resistance RGD PMID:20566415 RGD:10040984 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 IEP associated with obesity RGD PMID:20729114 RGD:13801195 NCBI chr 5:55,400,543...55,410,110
Ensembl chr 5:55,400,543...55,410,181 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:decreased expression:aorta RGD PMID:17824809 RGD:2292131 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nr4a1 nuclear receptor subfamily 4, group A, member 1 IMP compared to FHH RGD PMID:24722447 RGD:12910103 NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297 		JBrowse link
G Nr4a1m1Mcwi nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin IMP compared to FHH RGD PMID:24722447 RGD:12910103
G Pde5a phosphodiesterase 5A IMP RGD PMID:18787522 RGD:2314464 NCBI chr 2:210,858,515...211,003,480
Ensembl chr 2:210,858,063...210,999,701 		JBrowse link
G Pklr pyruvate kinase L/R treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870 		JBrowse link
G Plin2 perilipin 2 ISO associated with Obesity RGD PMID:17484887 RGD:1625752 NCBI chr 5:101,156,648...101,211,738
Ensembl chr 5:101,154,411...101,242,319 		JBrowse link
G Pltp phospholipid transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr 3:153,574,825...153,592,647
Ensembl chr 3:153,574,825...153,592,647 		JBrowse link
G Pon1 paraoxonase 1 treatment IEP RGD PMID:23644946 RGD:401794573 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Ppargc1b PPARG coactivator 1 beta treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr18:54,758,891...54,861,103
Ensembl chr18:54,758,902...54,861,194 		JBrowse link
G Rbp4 retinol binding protein 4 ISO protein:increased expression:blood serum (human) RGD PMID:29747616 RGD:329849113 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399 		JBrowse link
G Rps12 ribosomal protein S12 IEP associated with Metabolic Syndrome X;mRNA:increased expression:liver RGD PMID:25294893 RGD:11039460 NCBI chr 1:21,680,854...21,683,010
Ensembl chr 1:21,680,852...21,683,014 		JBrowse link
G Scd stearoyl-CoA desaturase treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562 		JBrowse link
G Serpinf2 serpin family F member 2 ISO protein:increased expression:plasma RGD PMID:9207984 RGD:1625533 NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383 		JBrowse link
G Socs3 suppressor of cytokine signaling 3 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787 		JBrowse link
G Sod2 superoxide dismutase 2 ISO associated with coronary artery disease;DNA:SNP: :rs4880 (human) RGD PMID:31396447 RGD:401827159 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Sod3 superoxide dismutase 3 ISO associated with coronary artery disease;DNA:SNP: :rs2536512, rs2855262 (human) RGD PMID:31396447 RGD:401827159 NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650 		JBrowse link
G Trib1 tribbles pseudokinase 1 susceptibility ISO DNA:SNPs,haplotypes: (rs6982502) (human) RGD PMID:27599772 RGD:401794577 NCBI chr 7:91,206,579...91,213,126
Ensembl chr 7:91,206,579...91,214,731 		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 1:117,718,896...117,835,434
Ensembl chr 1:117,718,896...117,834,605 		JBrowse link
G Txnip thioredoxin interacting protein susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:3' utr RGD PMID:17381501 RGD:1642750 NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886 		JBrowse link
G Vldlr very low density lipoprotein receptor IEP associated with Kidney Failure, Chronic;mRNA, protein:decreased expression:adipose tissue, skeletal muscle RGD PMID:9507207 RGD:1625577 NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920 		JBrowse link
G Xbp1 X-box binding protein 1 treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693 		JBrowse link
HYPERTRIGLYCERIDEMIA 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 susceptibility ISO ClinVar Annotator: match by term: Hypertriglyceridemia 1 ClinVar
OMIM		 PMID:11588264 PMID:12417524 PMID:12417525 PMID:12915450 PMID:18324930 More... NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816 		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 7:8,622,614...8,631,053
Ensembl chr 7:8,622,614...8,631,048 		JBrowse link
G Lipi lipase I ISO ClinVar Annotator: match by term: Hypertriglyceridemia 1 ClinVar PMID:12719377 PMID:25741868 PMID:28492532 NCBI chr11:14,189,323...14,228,992
Ensembl chr11:14,189,323...14,228,985 		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 5:15,121,104...15,582,363
Ensembl chr 5:15,121,133...15,579,363 		JBrowse link
G Zpr1 ZPR1 zinc finger ISO ClinVar Annotator: match by term: Hypertriglyceridemia 1 ClinVar PMID:25741868 NCBI chr 8:46,564,898...46,574,719
Ensembl chr 8:46,565,146...46,574,719 		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 7:8,622,614...8,631,053
Ensembl chr 7:8,622,614...8,631,048 		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 7:130,842,526...130,851,530
Ensembl chr 7:130,844,138...130,851,529 		JBrowse link
Hypoalphalipoproteinemias 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
ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease
ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease		 CTD
ClinVar		 PMID:7945562 PMID:10431237 PMID:10706591 PMID:10938021 PMID:11238261 More... NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170 		JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY ClinVar PMID:1901417 PMID:2108924 PMID:2123470 PMID:3141894 PMID:3142462 More... NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
hypobetalipoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B susceptibility ISO protein:decreased expression:plasma
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: Hypobetalipoproteinemia		 ClinVar
RGD		 PMID:174884 PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 More... RGD:1601203, RGD:1599164 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Apoc2 apolipoprotein C2 ISO protein:decreased expression:plasma RGD PMID:2242096 RGD:1601212 NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476 		JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO DNA:insertion:cds:c.43_44CTG (human)
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: Hypobetalipoproteinemia
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia		 ClinVar
RGD		 PMID:11668641 PMID:12175777 PMID:12730697 PMID:14727156 PMID:15358785 More... RGD:1580999 NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688 		JBrowse link
Hypocholesterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Hypocholesterolemia ClinVar PMID:15654334 PMID:16424354 PMID:16465619 PMID:16554528 PMID:16571601 More... NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688 		JBrowse link
G Ucp3 uncoupling protein 3 ISO RGD PMID:10935638 RGD:737762 NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762 		JBrowse link
hypolipoproteinemia 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 RGD PMID:11086027 RGD:1600951 NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170 		JBrowse link
G Apoa1 apolipoprotein A1 ISO RGD PMID:9931341 RGD:734583 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Il1b interleukin 1 beta ISO mRNA:increased expression:macrophage RGD PMID:17322100 RGD:1625405 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
Norum disease 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: APOLIPOPROTEIN A-I (GIESSEN) ClinVar PMID:6489332 PMID:7082443 PMID:28492532 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Lcat lecithin cholesterol acyltransferase ISO
ISS		 ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: LCAT-related condition | ClinVar Annotator: match by term: Norum disease
OMIM:245900
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1516702 PMID:1571050 PMID:1588268 PMID:1662503 PMID:1681161 More... RGD:1581778 NCBI chr19:33,834,748...33,838,214
Ensembl chr19:33,834,403...33,838,231 		JBrowse link
G Slc12a4 solute carrier family 12 member 4 ISO ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency ClinVar PMID:1571050 PMID:1662503 PMID:7613477 PMID:9541390 PMID:9741700 More... NCBI chr19:33,838,418...33,860,369
Ensembl chr19:33,838,419...33,860,331 		JBrowse link
primary hypoalphalipoproteinemia 1 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 DNA:mutations: :
ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: ABCA1-related disorder | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Familial high density lipoprotein deficiency disease | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:7945562 PMID:10431236 PMID:10431237 PMID:10525055 PMID:10706591 More... RGD:1298571 NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170 		JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 ClinVar PMID:1901417 PMID:17303779 PMID:20884842 PMID:21443680 PMID:21820994 More... NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		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 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Apoa4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583 		JBrowse link
sea-blue histiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sea-blue histiocyte syndrome | ClinVar Annotator: match by term: Sea-blue histiocytosis		 CTD
OMIM
ClinVar		 PMID:8488843 PMID:9279208 PMID:9360638 PMID:11095479 PMID:22949395 More... NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		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 IAGP
ISO		 DNA:missense mutation: p.G583C , 1757G>T (rat)
ClinVar Annotator: match by term: Sitosterolemia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9536098 PMID:11099417 PMID:11138003 PMID:11452359 PMID:11668628 More... RGD:1598659, RGD:631968 NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563 		JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO
ISS		 ClinVar Annotator: match by term: Sitosterolemia
OMIM:210250
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:3706300 PMID:4360855 PMID:6110091 PMID:11099417 PMID:11138003 More... RGD:1300331, RGD:631968 NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912 		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 6:9,992,537...10,025,355
Ensembl chr 6:9,992,541...10,025,336 		JBrowse link
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Sitosterolemia ClinVar PMID:28492532 NCBI chr 6:9,859,816...9,942,294
Ensembl chr 6:9,859,867...9,942,293 		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 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563 		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 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912 		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 6:9,992,537...10,025,355
Ensembl chr 6:9,992,541...10,025,336 		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 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563 		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 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912 		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 6:9,992,537...10,025,355
Ensembl chr 6:9,992,541...10,025,336 		JBrowse link
Smith-Lemli-Opitz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: RSH syndrome ClinVar PMID:7581380 PMID:7951215 PMID:8533761 PMID:8571958 PMID:9736777 More... NCBI chr 4:71,171,949...71,201,483
Ensembl chr 4:71,172,547...71,199,984 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO
ISS		 DNA:insertion
ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome
OMIM:270400
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:2222666 PMID:2945519 PMID:8737829 PMID:9536098 PMID:9634533 More... RGD:1600899, RGD:734884 NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055 		JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome ClinVar PMID:10208499 PMID:12730724 PMID:15701167 PMID:17445538 PMID:17694954 More... NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Nadsyn1 NAD synthetase 1 ISO ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome ClinVar PMID:23042628 PMID:24813812 PMID:25040602 PMID:25741868 PMID:28250423 More... NCBI chr 1:198,981,559...199,009,853
Ensembl chr 1:198,981,604...199,009,869 		JBrowse link
G Pax6 paired box 6 IEP protein:altered expression:embryo, forebrain, hindbrain (rat) RGD PMID:10564872 RGD:8552380 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
G Tshr thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome ClinVar PMID:34200080 NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538 		JBrowse link
Tangier disease 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
ISS		 ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease
OMIM:205400
CTD Direct Evidence: marker/mechanism
DNA:mutations: :		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:10431236 PMID:10431237 PMID:10535983 PMID:10706591 PMID:10938021 More... RGD:1600951, RGD:19165130, RGD:1298571 NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170 		JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency ClinVar PMID:28492532 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
Wolman Disease with Hypolipoproteinemia and Acanthocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipa lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Wolman disease with hypolipoproteinemia and acanthocytosis ClinVar PMID:7751811 PMID:7759067 PMID:8254026 PMID:8598644 PMID:8617513 More... NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    Nutritional and Metabolic Diseases 8519
      disease of metabolism 8519
        lipid metabolism disorder 1899
          Dyslipidemias 418
            Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d 1
            Hooft Disease 0
            Hypocholesterolemia 2
            Smith-Lemli-Opitz syndrome + 6
            familial hyperlipidemia + 385
            hypolipoproteinemia + 18
            sea-blue histiocytosis 1
Path 2
Term Annotations click to browse term
  disease 19055
    Developmental Disease 14526
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13539
        genetic disease 13201
          inherited metabolic disorder 6602
            lipid metabolism disorder 1899
              Dyslipidemias 418
                Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d 1
                Hooft Disease 0
                Hypocholesterolemia 2
                Smith-Lemli-Opitz syndrome + 6
                familial hyperlipidemia + 385
                hypolipoproteinemia + 18
                sea-blue histiocytosis 1
paths to the root