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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
 related_synonym: HDLCQ12;   HDLCQ6;   high density lipoprotein cholesterol level quantitative trait locus 12;   high density lipoprotein cholesterol level quantitative trait locus 6
 primary_id: MESH:D050171
 alt_id: OMIM:610762;   OMIM:612797;   RDO:0000386
For additional species annotation, visit the Alliance of Genome Resources.



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 CTD PMID:19060911 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 ClinVar Annotator: match by term: Dyslipidemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25037058 PMID:32853627 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 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 Klf14 Kruppel-like 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 ISO
IMP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:20530721 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: High density lipoprotein cholesterol level quantitative trait locus 12 ClinVar
OMIM
PMID:15292318 PMID:18364377 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 Nadsyn1 NAD synthetase 1 susceptibility ISO DNA:SNP: :rs12785878 G>T(human) RGD PMID:24073860 RGD:13703112 NCBI chr 1:198,981,559...199,009,806
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 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 Scarb1 scavenger receptor class B, member 1 ISO ClinVar Annotator: match by term: High density lipoprotein cholesterol level quantitative trait locus 6 ClinVar
OMIM
PMID:21226579 PMID:21480869 PMID:25741868 PMID:26965621 NCBI chr12:31,296,143...31,362,649
Ensembl chr12:31,296,156...31,362,647
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...79,370,976
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: Betalipoprotein deficiency disease
ClinVar Annotator: match by term: MTP DEFICIENCY
ClinVar Annotator: match by term: Abetalipoproteinemia
ClinVar Annotator: match by OMIM:200100
DNA:insertion:cds:c.419-420insA (human)
DNA:mutations:cds:multiple (human)
ClinVar
OMIM
RGD
PMID:1439810 PMID:2903181 PMID:7782284 PMID:8071315 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 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:8071315 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: Hyperalphalipoproteinemia 2
ClinVar Annotator: match by OMIM:614028
OMIM
ClinVar
PMID:2022742 PMID:19074352 PMID:24941081 PMID:24941082 PMID:25962519 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 Aunip aurora kinase A and ninein interacting protein ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,722,157...146,736,233
Ensembl chr 5:146,722,337...146,736,501
JBrowse link
G Catsper4 cation channel, sperm associated 4 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 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: Familial hypercholesterolemia 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: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,356,575...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: Familial hypercholesterolemia 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: Familial hypercholesterolemia 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: Familial hypercholesterolemia 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: Familial hypercholesterolemia 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: Familial hypercholesterolemia 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 Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 4
ClinVar Annotator: match by term: Hypercholesterolemia, autosomal recessive
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:603813
OMIM
ClinVar
PMID:4351242 PMID:7628519 PMID:11326085 PMID:11897284 PMID:12016260 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: Familial hypercholesterolemia 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: Familial hypercholesterolemia 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: Familial hypercholesterolemia 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: Familial hypercholesterolemia 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: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,709,085...146,720,577
Ensembl chr 5:146,708,900...146,720,673
JBrowse link
G Pdik1l PDLIM1 interacting kinase 1 like ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 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: Familial hypercholesterolemia 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: Familial hypercholesterolemia 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: Familial hypercholesterolemia 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: Familial hypercholesterolemia 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: Familial hypercholesterolemia 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: Familial hypercholesterolemia 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: Familial hypercholesterolemia 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: Familial hypercholesterolemia 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 5:146,277,972...146,285,856 JBrowse link
Broad-Betalipoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: Broad beta disease ClinVar PMID:2992507 PMID:3243553 PMID:6300187 PMID:9649566 PMID:16103896 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 ClinVar Annotator: match by term: Chylomicron retention disease
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:246700
OMIM
ClinVar
PMID:10665502 PMID:12692552 PMID:17309654 PMID:17945526 PMID:19285442 More... NCBI chr10:36,024,443...36,054,067
Ensembl chr10:36,024,382...36,054,066
JBrowse link
familial apolipoprotein A5 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 ISO OMIM NCBI chr 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: HYPERLIPOPROTEINEMIA, TYPE IB ClinVar
OMIM
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 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: Hyperlipoproteinemia Type IIb
ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to
ClinVar
RGD
PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1454832 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 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
OMIM
ClinVar
PMID:1351946 PMID:1400331 PMID:1479292 PMID:1505655 PMID:1511985 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 ID ClinVar
OMIM
PMID:19304573 PMID:20026666 PMID:20124439 PMID:21816778 PMID:22239554 More... NCBI chr 7:107,285,584...107,288,702
Ensembl chr 7:107,285,654...107,288,702
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: Fredrickson type IIa hyperlipoproteinemia
ClinVar PMID:19743957 PMID:20800056 PMID:24497850 PMID:25215231 PMID:25741868 NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
JBrowse link
G Apoa2 apolipoprotein A2 ISO ClinVar Annotator: match by OMIM:143890 OMIM
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 ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: Familial hypercholesterolemias
DNA:deletion:promoter, exon:
ClinVar
RGD
PMID:221546 PMID:1360085 PMID:1424233 PMID:1454832 PMID:1466657 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 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 Carm1 coactivator-associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689
JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:14756670 PMID:17094996 PMID:19538517 PMID:20045108 PMID:22698793 More... NCBI chr 8:20,342,089...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: Familial hypercholesterolemia 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 Ghr growth hormone receptor ISO ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia OMIM
ClinVar
PMID:25741868 PMID:26467025 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 Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL
ClinVar Annotator: match by term: Familial hypercholesterolemias
ClinVar Annotator: match by OMIM:143890
OMIM
ClinVar
PMID:200368 PMID:1057090 PMID:1139254 PMID:1301940 PMID:1301956 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 PMID:11326085 PMID:12464675 PMID:12788851 PMID:21872251 PMID:22157599 More... NCBI chr 5:146,955,607...146,978,601
Ensembl chr 5:146,955,607...146,978,601
JBrowse link
G LOC691141 hypothetical protein LOC691141 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 8:20,061,494...20,095,705
Ensembl chr 8:20,078,639...20,095,696
JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: Familial hypercholesterolemias
ClinVar PMID:10357843 PMID:10764678 PMID:11668641 PMID:12175777 PMID:12730697 More... NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688
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 ISO OMIM NCBI chr 4:85,213,595...85,230,607
Ensembl chr 4:85,213,887...85,230,603
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 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:1998642 PMID:25741868 PMID:28492532 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: Familial hypercholesterolemia 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 PMID:28492532 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:28492532 NCBI chr 8:20,059,937...20,063,567
Ensembl chr 8:20,059,892...20,063,677
JBrowse link
G Yipf2 Yip1 domain family, member 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 8:20,141,148...20,145,349
Ensembl chr 8:20,141,155...20,145,339
JBrowse link
Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B ClinVar PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1454832 More... NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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:1400331 PMID:1479292 PMID:1505655 PMID:1511985 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 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:135,127,119...135,138,302
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 chr13:85,131,635...85,175,179
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 chr16:76,489,779...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...47,122,929
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
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 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 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 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 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 synonym: Hypobetalipoproteinemia, normotriglyceridemic
ClinVar Annotator: match by term: Hypobetalipoproteinemia, familial, 1
ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia
ClinVar
OMIM
PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1454832 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 OMIM:605019 OMIM
ClinVar
PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 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 null ClinVar PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 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:8071315 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 ClinVar Annotator: match by term: Lipase deficiency, combined
ClinVar Annotator: match by term: Lipase deficiency combined
ClinVar Annotator: match by OMIM:246650
OMIM
ClinVar
PMID:17994020 PMID:19820022 PMID:25741868 PMID:28492532 NCBI chr10:14,597,726...14,684,071
Ensembl chr10:14,597,594...14,684,119
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 ClinVar Annotator: match by OMIM:207750
ClinVar Annotator: match by term: C-II ANAPOLIPOPROTEINEMIA
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE IB
ClinVar
CTD
PMID:213719 PMID:1349286 PMID:1628605 PMID:1782747 PMID:1971748 More... NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
JBrowse link
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Hyperlipoproteinemia, type I
ClinVar Annotator: match by term: Hyperlipemia essential familial
DNA:missense mutation:exon:p.D156G (human)
ClinVar Annotator: match by OMIM:238600
ClinVar
OMIM
RGD
PMID:1351946 PMID:1400331 PMID:1479292 PMID:1505655 PMID:1511985 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
glycogen storage disease IXa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO
IAGP
ClinVar Annotator: match by term: Glycogen storage disease type IXa1
DNA:mutations:multiple
DNA:missense mutations:multiple
ClinVar Annotator: match by term: GSD VIII
ClinVar Annotator: match by term: Glycogen storage disease IXa2
ClinVar Annotator: match by OMIM:306000
OMIM
ClinVar
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 JBrowse link
glycogen storage disease IXb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phkb phosphorylase kinase regulatory subunit beta ISO ClinVar Annotator: match by term: Glycogen storage disease IXb
ClinVar Annotator: match by OMIM:261750
OMIM
ClinVar
PMID:9215682 PMID:9326319 PMID:9402963 PMID:9536098 PMID:12825073 More... NCBI chr19:21,013,719...21,210,672
Ensembl chr19:21,025,733...21,210,633
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 OMIM:613027
ClinVar Annotator: match by term: Glycogen storage disease IXc
ClinVar Annotator: match by null
ClinVar
OMIM
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 ClinVar Annotator: match by term: Glycogen storage disease IXd
ClinVar Annotator: match by term: GSD IXd
ClinVar Annotator: match by OMIM:300559
OMIM
ClinVar
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
Hyperapobetalipoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Hyperapobetalipoproteinemia ClinVar PMID:1351946 PMID:1400331 PMID:1479292 PMID:1505655 PMID:1511985 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 susceptibility ISO ClinVar Annotator: match by term: Hyperapobetalipoproteinemia, susceptibility to ClinVar
OMIM
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 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:24033266 PMID:25741868 PMID:26415676 PMID:26467025 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: 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 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:135,127,119...135,138,302
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 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 chr18:23,576,212...23,583,177
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 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 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:1301940 PMID:1301956 PMID:1352322 PMID:1734910 PMID:2088165 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 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...50,506,389
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 Pappa1 pappalysin 1 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 CTD PMID:12730697 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: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, 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 8:110,306,031...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
protein:altered localization:liver
DNA:mutations:exon:p.V623M, p.R645Q (human)
DNA:polymorphism: :1784G>C (human)
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: Familial hypercholesterolemia 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: Hypercholesterolemia, autosomal dominant, 3
ClinVar Annotator: match by term: Familial hypercholesterolemia 3
ClinVar Annotator: match by OMIM:603776
OMIM
ClinVar
PMID:9536098 PMID:10357843 PMID:10764678 PMID:11668641 PMID:12175777 More... NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688
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 CTD PMID:16030523 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 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: Hypercholesterolemia, autosomal dominant, type B
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia
ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:144010
ClinVar
CTD
OMIM
RGD
PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1454832 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 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-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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1139254 PMID:1301940 PMID:1301956 PMID:1319734 PMID:1352322 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 RGD 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
DNA:missense mutation:cds:p.D374Y (human)
DNA:missense mutations:cds:p.S127R, p.F216L (human)
ClinVar
RGD
PMID:15654334 PMID:16424354 PMID:16554528 PMID:16571601 PMID:17316651 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: Familial type 3 hyperlipoproteinemia
ClinVar Annotator: match by term: BROAD-BETALIPOPROTEINEMIA
DNA:missense mutation:cds:p.R158C (human)
DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human)
ClinVar Annotator: match by term: FAMILIAL HYPERCHOLESTEROLEMIA WITH HYPERLIPEMIA
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia, UMLS MESH term: Broad-beta Hyperlipoproteinemia
ClinVar
OMIM
CTD
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:25741868 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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 OMIM
CTD
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 ISO ClinVar Annotator: match by term: Familial type 5 hyperlipoproteinemia
ClinVar Annotator: match by OMIM:144650
OMIM
ClinVar
PMID:16200213 PMID:25741868 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 Lipc lipase C, hepatic type IDA
ISO
associated with Nephrosis; protein:decreased expression:plasma (rat)
CTD Direct Evidence: marker/mechanism
associated with Obesity and Diabetes; DNA:transition:promoter:-514C>T (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human)
CTD
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 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 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 Ahsg alpha-2-HS-glycoprotein ISO protein:increased expression:serum RGD PMID:19228823 RGD:2313809 NCBI chr11:78,117,903...78,145,956 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 ISO DNA:polymorphism:promoter:-75G>A RGD PMID:7910586 RGD:1601187 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: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 chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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 F7 coagulation factor VII ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) RGD PMID:19329212 RGD:2312379 NCBI chr16:76,489,779...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 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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertriglyceridemia
CTD
ClinVar
PMID:20657596 PMID:22182842 PMID:25741868 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 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 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 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
ClinVar Annotator: match by term: Hypertriglyceridemia, susceptibility to
ClinVar
RGD
PMID:12719377 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 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 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 Plin2 perilipin 2 ISO associated with Obesity RGD PMID:17484887 RGD:1625752 NCBI chr 5:101,156,643...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 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 Rp1 RP1, axonemal microtubule associated ISO ClinVar Annotator: match by term: Hypertriglyceridemia, susceptibility to 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 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 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 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
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: Familial hypertriglyceridemia 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: Familial hypertriglyceridemia ClinVar PMID:21666694 NCBI chr 7:8,622,614...8,631,053
Ensembl chr 7:8,622,614...8,631,048
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 ClinVar
OMIM
PMID:21666694 PMID:26427795 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: Hypertriglyceridemia, transient infantile
ClinVar Annotator: match by OMIM:614480
OMIM
ClinVar
PMID:24549054 PMID:25741868 PMID:28492532 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 ClinVar Annotator: match by OMIM:604091
ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia
ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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 OMIM:604091
ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia
ClinVar Annotator: match by term: High density lipoprotein deficiency
ClinVar PMID:1901417 PMID:8240372 PMID:17303779 PMID:20884842 PMID:21820994 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: HYPOBETALIPOPROTEINEMIA, FAMILIAL
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia
ClinVar Annotator: match by term: Hypobetalipoproteinemia
ClinVar
RGD
PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1454832 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: Hypobetalipoproteinemia
ClinVar Annotator: match by term: Familial 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 Lcat lecithin cholesterol acyltransferase ISO ClinVar Annotator: match by term: LCAT deficiency
ClinVar Annotator: match by term: Norum disease
ClinVar Annotator: match by term: Fish-eye disease
ClinVar Annotator: match by OMIM:245900
ClinVar Annotator: match by OMIM:136120
ClinVar
OMIM
RGD
PMID:1516702 PMID:1571050 PMID:1662503 PMID:1681161 PMID:1737840 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 synonym: Dyslipoproteinemic corneal dystrophy ClinVar PMID:1571050 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: Familial High Density Lipoprotein Deficiency
ClinVar Annotator: match by term: Familial high density lipoprotein deficiency disease
ClinVar Annotator: match by term: ABCA1 polymorphism
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
RGD
PMID:10431236 PMID:10431237 PMID:11476965 PMID:11940086 PMID:18354102 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 Annotator: match by term: Hypoalphalipoproteinemia, primary
ClinVar PMID:21820994 PMID:23209431 PMID:23806608 PMID:24081495 PMID:26562506 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: APOLIPOPROTEIN A-I (BALTIMORE)
ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2
ClinVar Annotator: match by term: Apolipoprotein A-I deficiency
ClinVar Annotator: match by term: Apolipoprotein a-i deficiency
OMIM
ClinVar
PMID:1901417 PMID:2108924 PMID:2506176 PMID:2512329 PMID:6800349 More... NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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 Annotator: match by OMIM:210250
ClinVar
CTD
RGD
PMID:9536098 PMID:11099417 PMID:11138003 PMID:11668628 PMID:11893785 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 ClinVar Annotator: match by term: Sitosterolemia
ClinVar Annotator: match by OMIM:210250
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:3706300 PMID:4360855 PMID:6110091 PMID:11099417 PMID:11264985 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:11138003 PMID:11668628 PMID:11907139 PMID:15375183 More... NCBI chr 6:9,992,537...10,025,403
Ensembl chr 6:9,992,541...10,025,336
JBrowse link
Sitosterolemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Sitosterolemia 1 ClinVar PMID:11668628 PMID:11893785 PMID:17632509 PMID:24503134 PMID:25741868 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: Sitosterolemia 1 OMIM
ClinVar
PMID:3706300 PMID:4360855 PMID:6110091 PMID:11099417 PMID:11264985 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:11668628 PMID:24503134 PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr 6:9,992,537...10,025,403
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: SITOSTEROLEMIA 2
ClinVar Annotator: match by term: Sitosterolemia 2
ClinVar
OMIM
PMID:11099417 PMID:11138003 PMID:11907139 PMID:15375183 PMID:16029460 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: SITOSTEROLEMIA 2
ClinVar Annotator: match by term: Sitosterolemia 2
ClinVar PMID:16029460 PMID:20719861 PMID:25741868 PMID:28492532 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 2
ClinVar Annotator: match by term: Sitosterolemia 2
ClinVar PMID:11099417 PMID:11138003 PMID:11907139 PMID:15375183 PMID:17228349 More... NCBI chr 6:9,992,537...10,025,403
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 Dhcr7 7-dehydrocholesterol reductase ISO DNA:insertion
ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:270400
ClinVar
CTD
OMIM
RGD
PMID:8259166 PMID:8737829 PMID:8989473 PMID:9024557 PMID:9536098 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:25040602 PMID:25741868 PMID:28250423 PMID:28492532 NCBI chr 1:198,981,559...199,009,806
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
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 ClinVar Annotator: match by term: Tangier disease
ClinVar Annotator: match by term: ABCA1 polymorphism
ClinVar Annotator: match by OMIM:205400
CTD Direct Evidence: marker/mechanism
DNA:mutations: :
ClinVar
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 null
ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency
ClinVar PMID:8282791 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        lipid metabolism disorder 1017
          Dyslipidemias 332
            Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d 0
            Hooft Disease 0
            Hypocholesterolemia 2
            Smith-Lemli-Opitz syndrome + 4
            familial hyperlipidemia + 307
            hypolipoproteinemia + 15
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          inherited metabolic disorder 2649
            lipid metabolism disorder 1017
              Dyslipidemias 332
                Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d 0
                Hooft Disease 0
                Hypocholesterolemia 2
                Smith-Lemli-Opitz syndrome + 4
                familial hyperlipidemia + 307
                hypolipoproteinemia + 15
paths to the root