Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Hypertriglyceridemia
go back to main search page
Accession:DOID:9006599 term browser browse the term
Definition:A condition of elevated levels of TRIGLYCERIDES in the blood.
Synonyms:exact_synonym: Hypertriglyceridemias
 related_synonym: Hypertriglyceridemia, Susceptibility To
 primary_id: MESH:D015228;   RDO:0005845
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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 Ada adenosine deaminase treatment IEP RGD PMID:30280312 RGD:152995395 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with HIV Infections RGD PMID:21595566 RGD:8694463 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO GAD PMID:15118671 RGD:1331525 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
JBrowse link
G Ahsg alpha-2-HS-glycoprotein ISO protein:increased expression:serum RGD PMID:19228823 RGD:2313809 NCBI chr11:78,117,903...78,145,956
Ensembl chr11:78,117,918...78,145,999
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32045588 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Angptl3 angiopoietin-like 3 ISO RGD PMID:12672813 RGD:1578347 NCBI chr 5:113,703,007...113,710,044
Ensembl chr 5:113,703,012...113,709,957
JBrowse link
G Angptl4 angiopoietin-like 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28842503 NCBI chr 7:14,550,288...14,557,797
Ensembl chr 7:14,550,311...14,556,519
JBrowse link
G Apoa1 apolipoprotein A1 no_association 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
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertriglyceridemia
CTD
ClinVar
RGD
PMID:18324930 PMID:19447388 PMID:20657596 PMID:23151256 PMID:23307945 More... RGD:2313328, RGD:2313317, RGD:1578414 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:15118671 PMID:28808185 RGD:1601235, RGD:1331525, RGD:13703132 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 PMID:28492532 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 RGD PMID:12719377 RGD:1625450 NCBI chr11:14,189,323...14,228,992
Ensembl chr11:14,189,323...14,228,985
JBrowse link
G Lmf1 lipase maturation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17994020 NCBI chr10:14,597,726...14,684,071
Ensembl chr10:14,597,594...14,684,119
JBrowse link
G Lpl lipoprotein lipase susceptibility IDA
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by term: Hypertriglyceridemia
CTD
ClinVar
RGD
PMID:8147947 PMID:20657596 PMID:25741868 PMID:11016888 PMID:16431216 More... RGD:2313581, RGD:1580533, RGD:2313305 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
JBrowse link
G Lrp1b LDL receptor related protein 1B treatment HDA RGD PMID:30905023 RGD:151665141 NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505
JBrowse link
G Lta lymphotoxin alpha susceptibility
no_association
ISO associated with Diabetes Mellitus, Non-Insulin-Dependent
DNA:polymorphism
RGD PMID:7783649 PMID:9245742 RGD:1625036, RGD:1625035 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:32045588 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
JBrowse link
G 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 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
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 OMIM
ClinVar
PMID:16200213 PMID:24591733 PMID:25741868 PMID:29954705 PMID:31980526 More... NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
JBrowse link
HYPERTRIGLYCERIDEMIA 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 susceptibility ISO ClinVar Annotator: match by term: Hypertriglyceridemia, familial OMIM
ClinVar
PMID:11588264 PMID:12417524 PMID:12417525 PMID:12915450 PMID:18324930 More... NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
JBrowse link
G Creb3l3 cAMP responsive element binding protein 3-like 3 ISO ClinVar Annotator: match by term: Hypertriglyceridemia, familial ClinVar PMID:21666694 PMID:25741868 PMID:28492532 PMID:31619059 PMID:32041611 NCBI chr 7:8,622,614...8,631,053
Ensembl chr 7:8,622,614...8,631,048
JBrowse link
G Lipi lipase I ISO ClinVar Annotator: match by term: Hypertriglyceridemia, familial ClinVar PMID:12719377 PMID:28492532 NCBI chr11:14,189,323...14,228,992
Ensembl chr11:14,189,323...14,228,985
JBrowse link
G Rp1 RP1, axonemal microtubule associated ISO ClinVar Annotator: match by term: Hypertriglyceridemia, familial 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
HYPERTRIGLYCERIDEMIA 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creb3l3 cAMP responsive element binding protein 3-like 3 ISO ClinVar Annotator: match by term: HYPERTRIGLYCERIDEMIA 2 OMIM
ClinVar
PMID:21666694 PMID:25741868 PMID:26427795 PMID:28492532 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 OMIM
ClinVar
PMID:22226083 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Nutritional and Metabolic Diseases 6747
      disease of metabolism 6747
        lipid metabolism disorder 1149
          familial hyperlipidemia 311
            Hypertriglyceridemia 101
              HYPERTRIGLYCERIDEMIA 1 4
              HYPERTRIGLYCERIDEMIA 2 1
              Hypertriglyceridemia, Transient Infantile 1
              Hypertriglyceridemic Waist 0
              hyperlipoproteinemia type IV 1
              hyperlipoproteinemia type V 1
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          inherited metabolic disorder 4659
            lipid metabolism disorder 1149
              Dyslipidemias 339
                familial hyperlipidemia 311
                  Hypertriglyceridemia 101
                    HYPERTRIGLYCERIDEMIA 1 4
                    HYPERTRIGLYCERIDEMIA 2 1
                    Hypertriglyceridemia, Transient Infantile 1
                    Hypertriglyceridemic Waist 0
                    hyperlipoproteinemia type IV 1
                    hyperlipoproteinemia type V 1
paths to the root