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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:Hypertriglyceridemia
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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 6:107,485,088...107,493,082
Ensembl chr 6:107,485,249...107,493,798
JBrowse link
G Acp1 acid phosphatase 1 ISO associated with Obesity RGD PMID:12409270 RGD:1625288 NCBI chr 6:49,836,064...49,851,714
Ensembl chr 6:49,836,075...49,851,714
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with HIV Infections RGD PMID:21595566 RGD:8694463 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO GAD PMID:15118671 RGD:1331525 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Ahsg alpha-2-HS-glycoprotein ISO protein:increased expression:serum RGD PMID:19228823 RGD:2313809 NCBI chr11:81,711,269...81,717,594 JBrowse link
G Angptl3 angiopoietin-like 3 ISO RGD PMID:12672813 RGD:1578347 NCBI chr 5:117,698,590...117,706,729
Ensembl chr 5:117,698,764...117,705,808
JBrowse link
G Angptl4 angiopoietin-like 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28842503 NCBI chr 7:18,627,814...18,634,043
Ensembl chr 7:18,627,808...18,634,079
JBrowse link
G Apoa1 apolipoprotein A1 no_association ISO DNA:polymorphism:promoter:-75G>A RGD PMID:7910586 RGD:1601187 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apoa2 apolipoprotein A2 ISO DNA:polymorphism RGD PMID:9489233 RGD:1601190 NCBI chr13:89,596,872...89,598,805
Ensembl chr13:89,597,138...89,598,802
JBrowse link
G Apoa4 apolipoprotein A4 ISO human gene in mouse model RGD PMID:2167514 RGD:5685672 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
JBrowse link
G Apoa5 apolipoprotein A5 IEP
ISO
ClinVar Annotator: match by term: Hypertriglyceridemia, susceptibility to
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C (human)
ClinVar
CTD
PMID:11588264, PMID:12417524, PMID:12417525, PMID:12915450, PMID:20657596, PMID:23151256, PMID:23307945, PMID:24387992, PMID:25741868, PMID:16238453, PMID:18468520, PMID:12818421 RGD:2313328, RGD:2313317, RGD:1578414 NCBI chr 8:50,559,079...50,561,720
Ensembl chr 8:50,559,126...50,561,736
JBrowse link
G Apob apolipoprotein B IEP
ISO
protein:increased expression:plasma (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:20657596, PMID:8121310 RGD:11353966 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoc1 apolipoprotein C1 ISO protein:increased expression:plasma RGD PMID:3757210 RGD:2313953 NCBI chr 1:80,606,638...80,609,921
Ensembl chr 1:80,606,638...80,609,921
JBrowse link
G Apoc2 apolipoprotein C2 susceptibility ISO RGD PMID:3944267, PMID:7590197 RGD:1601214, RGD:1601205 NCBI chr 1:80,589,023...80,593,991
Ensembl chr 1:80,589,023...80,594,136
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 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Apoe apolipoprotein E susceptibility ISO
IMP
associated with Metabolic Syndrome X; DNA:missense mutations:cds:p.C112R, p.R158C (human)
ClinVar Annotator: match by term: Hypertriglyceridemia
ClinVar PMID:2987927, PMID:3922972, PMID:7263700, PMID:8346443, PMID:8618665, PMID:8644717, PMID:9343467, PMID:9932938, PMID:10213549, PMID:10799751, PMID:11835377, PMID:11940689, PMID:11940706, PMID:14741101, PMID:15048896, PMID:15184602, PMID:15326261, PMID:15557508, PMID:15668424, PMID:19605830, PMID:22381401, PMID:23060451, PMID:23296339, PMID:23571587, PMID:24033266, PMID:25741868, PMID:27260402, PMID:28492532, PMID:30311386, PMID:15713714, PMID:28808185, PMID:15118671 RGD:1601235, RGD:13703132, RGD:1331525 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Bche butyrylcholinesterase ISO associated with diabetes mellitus
CTD Direct Evidence: marker/mechanism
CTD PMID:23000450, PMID:8149699 RGD:1601335 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Cela2a chymotrypsin like elastase 2A ISO ClinVar Annotator: match by term: Hypertriglyceridemia ClinVar PMID:31358993 NCBI chr 5:160,374,031...160,383,782
Ensembl chr 5:160,374,031...160,383,782
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 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: therapeutic CTD PMID:11893366 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 treatment ISO RGD PMID:18183944 RGD:10401058 NCBI chr 7:117,566,363...117,576,735
Ensembl chr 7:117,566,368...117,576,737
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 chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
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 2:227,080,912...227,083,654
Ensembl chr 2:227,080,924...227,083,501
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment IEP RGD PMID:22947172 RGD:10449176 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
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 6:26,355,296...26,385,761
Ensembl chr 6:26,355,296...26,385,761
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO RGD PMID:11118009 RGD:1625423 NCBI chr 4:118,852,046...118,901,583
Ensembl chr 4:118,852,062...118,901,591
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO RGD PMID:16804065 RGD:1601642 NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
JBrowse link
G Il6st interleukin 6 signal transducer IDA RGD PMID:8843746 RGD:1626687 NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Insig1 insulin induced gene 1 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chr 4:342,302...350,515
Ensembl chr 4:342,302...350,515
JBrowse link
G Insig2 insulin induced gene 2 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chr13:37,264,818...37,292,718
Ensembl chr13:37,266,312...37,287,458
JBrowse link
G Lcat lecithin cholesterol acyltransferase ISO RGD PMID:14668345 RGD:1581782 NCBI chr19:37,913,333...37,916,799
Ensembl chr19:37,913,336...37,916,813
JBrowse link
G Ldlr low density lipoprotein receptor IMP RGD PMID:28469073, PMID:27378433 RGD:12910100, RGD:12910104 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
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 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
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 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G Lipe lipase E, hormone sensitive type IDA RGD PMID:11016888 RGD:2313581 NCBI chr 1:82,248,031...82,266,727
Ensembl chr 1:82,248,046...82,266,727
JBrowse link
G Lipi lipase I susceptibility ISO DNA:polymorphism: :p.C55Y
ClinVar Annotator: match by term: Hypertriglyceridemia, susceptibility to
ClinVar PMID:12719377, PMID:12719377 RGD:1625450 NCBI chr11:13,960,246...13,999,869
Ensembl chr11:13,960,246...13,999,862
JBrowse link
G Lmf1 lipase maturation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17994020 NCBI chr10:14,945,185...15,031,855
Ensembl chr10:14,945,265...15,031,942
JBrowse link
G Lpl lipoprotein lipase susceptibility IDA
ISO
ClinVar Annotator: match by term: Hypertriglyceridemia
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar
CTD
PMID:8147947, PMID:20657596, PMID:25741868, PMID:11016888, PMID:17848837, PMID:16431216 RGD:2313581, RGD:2313305, RGD:1580533 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
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 chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Mtor mechanistic target of rapamycin kinase IMP associated with Insulin Resistance RGD PMID:20566415 RGD:10040984 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 IEP associated with obesity RGD PMID:20729114 RGD:13801195 NCBI chr 5:56,567,109...56,576,676
Ensembl chr 5:56,567,109...56,576,676
JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:decreased expression:aorta RGD PMID:17824809 RGD:2292131 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Pde5a phosphodiesterase 5A IMP RGD PMID:18787522 RGD:2314464 NCBI chr 2:226,899,604...227,044,916
Ensembl chr 2:226,900,619...227,041,576
JBrowse link
G Plin2 perilipin 2 ISO associated with Obesity RGD PMID:17484887 RGD:1625752 NCBI chr 5:104,984,413...105,010,863
Ensembl chr 5:104,984,414...105,010,857
JBrowse link
G Pltp phospholipid transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr 3:161,304,469...161,322,289
Ensembl chr 3:161,304,469...161,322,289
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Rp1 RP1, axonemal microtubule associated ISO ClinVar Annotator: match by term: Hypertriglyceridemia, susceptibility to ClinVar PMID:12764676, PMID:20664799, PMID:25741868 NCBI chr 5:15,005,028...15,060,508
Ensembl chr 5:15,043,955...15,060,508
JBrowse link
G Rps12 ribosomal protein S12 IEP associated with Metabolic Syndrome X;mRNA:increased expression:liver RGD PMID:25294893 RGD:11039460 NCBI chr 1:22,758,214...22,760,370
Ensembl chr 1:22,758,212...22,760,370
JBrowse link
G Serpinf2 serpin family F member 2 ISO protein:increased expression:plasma RGD PMID:9207984 RGD:1625533 NCBI chr10:62,264,247...62,272,353
Ensembl chr10:62,264,788...62,273,119
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr10:4,956,795...4,958,472
Ensembl chr10:4,957,326...4,958,461
JBrowse link
G Socs3 suppressor of cytokine signaling 3 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr10:106,973,863...106,976,969
Ensembl chr10:106,975,178...106,976,040
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 1:124,983,391...125,101,759
Ensembl chr 1:124,983,452...125,099,573
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 2:198,683,168...198,686,971
Ensembl chr 2:198,683,159...198,686,974
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 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
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 ClinVar Annotator: match by term: Familial hypertriglyceridemia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12915450, PMID:23151256, PMID:23307945, PMID:25741868 NCBI chr 8:50,559,079...50,561,720
Ensembl chr 8:50,559,126...50,561,736
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 7:11,490,852...11,499,287
Ensembl chr 7:11,490,852...11,499,282
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 OMIM:144650 OMIM
ClinVar
PMID:16200213 NCBI chr 8:50,559,079...50,561,720
Ensembl chr 8:50,559,126...50,561,736
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 NCBI chr 7:141,368,928...141,377,931
Ensembl chr 7:141,370,491...141,377,928
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        lipid metabolism disorder 899
          familial hyperlipidemia 267
            Hypertriglyceridemia 94
              Hypertriglyceridemia, Transient Infantile 1
              Hypertriglyceridemic Waist 0
              hyperlipoproteinemia type IV 2
              hyperlipoproteinemia type V 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            lipid metabolism disorder 899
              Dyslipidemias 291
                familial hyperlipidemia 267
                  Hypertriglyceridemia 94
                    Hypertriglyceridemia, Transient Infantile 1
                    Hypertriglyceridemic Waist 0
                    hyperlipoproteinemia type IV 2
                    hyperlipoproteinemia type V 1
paths to the root

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