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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
 xref: EFO:0004211

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Hypertriglyceridemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaca acetyl-CoA carboxylase alpha treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chrNW_004955451:679,033...909,892
Ensembl chrNW_004955451:600,254...909,892 		JBrowse link
G Acacb acetyl-CoA carboxylase beta treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chrNW_004955455:10,282,308...10,427,439
Ensembl chrNW_004955455:10,308,192...10,426,076 		JBrowse link
G Acp1 acid phosphatase 1 ISO associated with Obesity RGD PMID:12409270 RGD:1625288 NCBI chrNW_004955487:290,434...302,405
Ensembl chrNW_004955487:290,557...302,547 		JBrowse link
G Ada adenosine deaminase treatment ISO RGD PMID:30280312 RGD:152995395 NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with HIV Infections RGD PMID:21595566 RGD:8694463 NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402 		JBrowse link
G Ahr aryl hydrocarbon receptor treatment ISO RGD PMID:23644946 RGD:401794573 NCBI chrNW_004955410:20,428,531...20,459,482
Ensembl chrNW_004955410:20,428,546...20,456,836 		JBrowse link
G Ahsg alpha 2-HS glycoprotein ISO protein:increased expression:serum RGD PMID:19228823 RGD:2313809 NCBI chrNW_004955420:21,071,111...21,078,397
Ensembl chrNW_004955420:21,069,681...21,078,298 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32045588 NCBI chrNW_004955538:3,208,711...3,224,386
Ensembl chrNW_004955538:3,208,710...3,229,904 		JBrowse link
G Angptl3 angiopoietin like 3 ISO RGD PMID:12672813 RGD:1578347 NCBI chrNW_004955423:27,113,378...27,121,339
Ensembl chrNW_004955423:27,109,962...27,121,276 		JBrowse link
G Angptl4 angiopoietin like 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28842503 NCBI chrNW_004955563:1,024,163...1,030,816
Ensembl chrNW_004955563:1,021,414...1,029,894 		JBrowse link
G Apoa1 apolipoprotein A1 no_association
treatment		 ISO DNA:polymorphism:promoter:-75G>A RGD PMID:7910586 PMID:23644946 RGD:1601187 RGD:401794573 NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298 		JBrowse link
G Apoa2 apolipoprotein A2 ISO DNA:polymorphism RGD PMID:9489233 RGD:1601190 NCBI chrNW_004955468:12,977,956...12,979,282
Ensembl chrNW_004955468:12,977,956...12,979,753 		JBrowse link
G Apoa4 apolipoprotein A4 ISO human gene in mouse model RGD PMID:2167514 RGD:5685672 NCBI chrNW_004955412:18,158,095...18,160,636
Ensembl chrNW_004955412:18,155,801...18,160,701 		JBrowse link
G Apoa5 apolipoprotein A5 ISO ClinVar Annotator: match by term: Hypertriglyceridemia ClinVar PMID:18324930 PMID:19447388 PMID:23151256 PMID:23307945 PMID:24591733 More... NCBI chrNW_004955412:18,128,861...18,131,752
Ensembl chrNW_004955412:18,129,603...18,131,115 		JBrowse link
G Apob apolipoprotein B ISO protein:increased expression:plasma (rat)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:8121310 PMID:20657596 RGD:11353966 NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424 		JBrowse link
G Apoc1 apolipoprotein C1 ISO protein:increased expression:plasma RGD PMID:3757210 RGD:2313953 NCBI chrNW_004955555:2,005,962...2,007,239 JBrowse link
G Apoc2 apolipoprotein C2 susceptibility ISO RGD PMID:3944267 PMID:7590197 RGD:1601205 RGD:1601214 NCBI chrNW_004955555:2,019,547...2,021,543
Ensembl chrNW_004955555:2,016,217...2,021,830 		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 chrNW_004955412:18,165,667...18,168,015
Ensembl chrNW_004955412:18,165,667...18,168,015 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO associated with Metabolic Syndrome X; DNA:missense mutations:cds:p.C112R, p.R158C (human) RGD PMID:15713714 PMID:28808185 RGD:13703132 RGD:1601235 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888 		JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism
associated with diabetes mellitus		 CTD
RGD		 PMID:8149699 PMID:23000450 RGD:1601335 NCBI chrNW_004955448:15,327,374...15,396,827
Ensembl chrNW_004955448:15,329,273...15,396,970 		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 chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382 		JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 treatment ISO RGD PMID:18183944 RGD:10401058 NCBI chrNW_004955454:2,933,904...2,944,675
Ensembl chrNW_004955454:2,934,152...2,944,492 		JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chrNW_004955414:16,059,781...16,089,727
Ensembl chrNW_004955414:16,059,781...16,089,727 		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 chrNW_004955404:685,170...692,797
Ensembl chrNW_004955404:680,594...693,665 		JBrowse link
G Fabp2 fatty acid binding protein 2 ISO DNA:polymorphism:CDS:amino acid A54T, in a normal glucose tolerant population from urban south India
associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.A54T (human)		 RGD PMID:10999802 PMID:16919542 RGD:1300313 RGD:1626401 NCBI chrNW_004955428:20,930,512...20,933,950
Ensembl chrNW_004955428:20,930,479...20,933,950 		JBrowse link
G Fasn fatty acid synthase treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chrNW_004955506:1,063,002...1,079,939
Ensembl chrNW_004955506:1,063,002...1,079,939 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:22947172 RGD:10449176 NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083 		JBrowse link
G Gckr glucokinase regulator susceptibility ISO ClinVar Annotator: match by term: Hypertriglyceridemia
DNA:SNPs,haplotypes: (rs780094) (human)		 ClinVar
RGD		 PMID:22182842 PMID:25741868 PMID:27599772 PMID:28492532 RGD:401794577 NCBI chrNW_004955469:9,461,541...9,485,034
Ensembl chrNW_004955469:9,461,848...9,484,707 		JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO RGD PMID:11118009 RGD:1625423 NCBI chrNW_004955424:15,692,088...15,739,894
Ensembl chrNW_004955424:15,692,088...15,739,894 		JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chrNW_004955431:17,291,890...17,363,611
Ensembl chrNW_004955431:17,291,270...17,363,714 		JBrowse link
G Gpr55 G protein-coupled receptor 55 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30148676 NCBI chrNW_004955453:4,470,602...4,520,036 JBrowse link
G Gpx3 glutathione peroxidase 3 ISO associated with coronary artery disease;DNA:SNP: :rs3828599 (human) RGD PMID:31396447 RGD:401827159 NCBI chrNW_004955408:2,622,162...2,629,088
Ensembl chrNW_004955408:2,622,741...2,629,032 		JBrowse link
G Hnf4a hepatocyte nuclear factor 4 alpha ISO Finnish and Mexican populations; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1A (1-1-2) RGD PMID:16804065 RGD:1601642 NCBI chrNW_004955445:12,925,248...12,962,501
Ensembl chrNW_004955445:12,924,662...12,984,281 		JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO RGD PMID:8843746 RGD:1626687 NCBI chrNW_004955446:11,790,636...11,837,734
Ensembl chrNW_004955446:11,790,444...11,835,001 		JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419 		JBrowse link
G Insig1 insulin induced gene 1 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chrNW_004955491:8,333,624...8,344,658
Ensembl chrNW_004955491:8,335,359...8,344,658 		JBrowse link
G Insig2 insulin induced gene 2 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chrNW_004955459:11,571,582...11,596,069
Ensembl chrNW_004955459:11,571,145...11,592,146 		JBrowse link
G Lamc1 laminin subunit gamma 1 susceptibility ISO DNA:SNPs,haplotypes: (rs10911205) (human) RGD PMID:27599772 RGD:401794577 NCBI chrNW_004955406:21,863,836...21,990,161
Ensembl chrNW_004955406:21,863,836...21,992,199 		JBrowse link
G Lcat lecithin-cholesterol acyltransferase ISO RGD PMID:14668345 RGD:1581782 NCBI chrNW_004955484:8,772,692...8,776,122
Ensembl chrNW_004955484:8,772,692...8,776,122 		JBrowse link
G Ldlr low density lipoprotein receptor ISO RGD PMID:27378433 PMID:28469073 RGD:12910100 RGD:12910104 NCBI chrNW_004955495:2,114,702...2,135,584
Ensembl chrNW_004955495:2,114,434...2,138,056 		JBrowse link
G Lep leptin ISO RGD PMID:22948215 RGD:12904911 NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472 		JBrowse link
G Lipc lipase C, hepatic type ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human) RGD PMID:187516 RGD:2308846 NCBI chrNW_004955450:15,947,869...16,062,449
Ensembl chrNW_004955450:15,948,187...16,048,766 		JBrowse link
G Lipe lipase E, hormone sensitive type ISO RGD PMID:11016888 RGD:2313581 NCBI chrNW_004955555:511,085...531,165
Ensembl chrNW_004955555:514,410...530,759 		JBrowse link
G Lipi lipase I susceptibility ISO DNA:polymorphism: :p.C55Y RGD PMID:12719377 RGD:1625450 NCBI chrNW_004955407:16,013,285...16,071,187
Ensembl chrNW_004955407:16,012,264...16,056,796 		JBrowse link
G Lmf1 lipase maturation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17994020 NCBI chrNW_004955442:16,250,131...16,360,907
Ensembl chrNW_004955442:16,245,081...16,360,846 		JBrowse link
G LOC102010850 cytochrome P450 1A1 treatment ISO RGD PMID:23644946 RGD:401794573 NCBI chrNW_004955450:3,183,958...3,189,488
Ensembl chrNW_004955450:3,183,750...3,189,488 		JBrowse link
G Lpl lipoprotein lipase susceptibility ISO ClinVar Annotator: match by term: Hypertriglyceridemia RGD
ClinVar		 PMID:17848837 PMID:25741868 RGD:2313305 NCBI chrNW_004955403:43,646,084...43,672,116
Ensembl chrNW_004955403:43,646,084...43,673,967 		JBrowse link
G Lta lymphotoxin alpha no_association
susceptibility		 ISO DNA:polymorphism
associated with Diabetes Mellitus, Non-Insulin-Dependent		 RGD PMID:7783649 PMID:9245742 RGD:1625035 RGD:1625036 NCBI chrNW_004955437:114,216...116,003
Ensembl chrNW_004955437:114,640...115,529 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:32045588 NCBI chrNW_004955432:22,440,671...22,519,592
Ensembl chrNW_004955432:22,440,637...22,517,647 		JBrowse link
G Mlxipl MLX interacting protein like treatment
susceptibility		 ISO DNA:SNPs,haplotypes: (rs17145738) (human) RGD PMID:26394137 PMID:27599772 RGD:329955565 RGD:401794577 NCBI chrNW_004955456:14,096,530...14,116,687
Ensembl chrNW_004955456:14,096,531...14,117,269 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO associated with Insulin Resistance RGD PMID:20566415 RGD:10040984 NCBI chrNW_004955486:2,487,642...2,599,694
Ensembl chrNW_004955486:2,487,642...2,599,694 		JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 ISO associated with obesity RGD PMID:20729114 RGD:13801195 NCBI chrNW_004955472:3,054,026...3,064,530
Ensembl chrNW_004955472:3,054,154...3,064,433 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:decreased expression:aorta RGD PMID:17824809 RGD:2292131 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814 		JBrowse link
G Nr4a1 nuclear receptor subfamily 4 group A member 1 ISO compared to FHH RGD PMID:24722447 RGD:12910103 NCBI chrNW_004955547:2,404,532...2,426,882
Ensembl chrNW_004955547:2,404,532...2,431,050 		JBrowse link
G Pde5a phosphodiesterase 5A ISO RGD PMID:18787522 RGD:2314464 NCBI chrNW_004955428:20,785,497...20,904,717
Ensembl chrNW_004955428:20,785,423...20,904,717 		JBrowse link
G Pklr pyruvate kinase L/R treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chrNW_004955545:1,742,432...1,749,632
Ensembl chrNW_004955545:1,739,152...1,749,632 		JBrowse link
G Plin2 perilipin 2 ISO associated with Obesity RGD PMID:17484887 RGD:1625752 NCBI chrNW_004955434:21,573,860...21,580,990
Ensembl chrNW_004955434:21,574,292...21,580,988 		JBrowse link
G Pltp phospholipid transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chrNW_004955445:11,384,723...11,399,217
Ensembl chrNW_004955445:11,384,723...11,399,217 		JBrowse link
G Pon1 paraoxonase 1 treatment ISO RGD PMID:23644946 RGD:401794573 NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chrNW_004955413:30,306,563...30,366,245
Ensembl chrNW_004955413:30,307,219...30,359,500 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435 		JBrowse link
G Ppargc1b PPARG coactivator 1 beta treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chrNW_004955415:4,638,057...4,756,885
Ensembl chrNW_004955415:4,644,998...4,757,093 		JBrowse link
G Rbp4 retinol binding protein 4 ISO protein:increased expression:blood serum (human) RGD PMID:29747616 RGD:329849113 NCBI chrNW_004955507:112,342...120,050
Ensembl chrNW_004955507:108,669...120,584 		JBrowse link
G Rps12 ribosomal protein S12 ISO associated with Metabolic Syndrome X;mRNA:increased expression:liver RGD PMID:25294893 RGD:11039460 NCBI chrNW_004955436:13,328,496...13,331,321
Ensembl chrNW_004955436:13,328,496...13,331,883 		JBrowse link
G Serpinf2 serpin family F member 2 ISO protein:increased expression:plasma RGD PMID:9207984 RGD:1625533 NCBI chrNW_004955481:1,441,262...1,449,078
Ensembl chrNW_004955481:1,442,010...1,449,242 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chrNW_004955442:7,321,337...7,323,109
Ensembl chrNW_004955442:7,321,337...7,323,109 		JBrowse link
G Socs3 suppressor of cytokine signaling 3 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chrNW_004955506:4,222,455...4,225,563
Ensembl chrNW_004955506:4,222,455...4,225,563 		JBrowse link
G Sod2 superoxide dismutase 2 ISO associated with coronary artery disease;DNA:SNP: :rs4880 (human) RGD PMID:31396447 RGD:401827159 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163 		JBrowse link
G Sod3 superoxide dismutase 3 ISO associated with coronary artery disease;DNA:SNP: :rs2536512, rs2855262 (human) RGD PMID:31396447 RGD:401827159 NCBI chrNW_004955480:257,716...263,149 JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chrNW_004955577:171,425...183,669
Ensembl chrNW_004955577:171,425...186,046 		JBrowse link
G Trib1 tribbles pseudokinase 1 susceptibility ISO DNA:SNPs,haplotypes: (rs6982502) (human) RGD PMID:27599772 RGD:401794577 NCBI chrNW_004955461:494,003...501,928
Ensembl chrNW_004955461:494,003...501,990 		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 chrNW_004955416:29,846,374...29,880,922
Ensembl chrNW_004955416:29,814,077...29,939,344 		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 chrNW_004955568:103,801...107,791
Ensembl chrNW_004955568:103,762...107,785 		JBrowse link
G Vldlr very low density lipoprotein receptor ISO associated with Kidney Failure, Chronic;mRNA, protein:decreased expression:adipose tissue, skeletal muscle RGD PMID:9507207 RGD:1625577 NCBI chrNW_004955434:7,013,092...7,050,103
Ensembl chrNW_004955434:7,013,092...7,050,103 		JBrowse link
G Xbp1 X-box binding protein 1 treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chrNW_004955455:3,037,885...3,041,827 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 chrNW_004955412:18,128,861...18,131,752
Ensembl chrNW_004955412:18,129,603...18,131,115 		JBrowse link
hyperlipoproteinemia type V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 susceptibility ISO ClinVar Annotator: match by term: Familial type 5 hyperlipoproteinemia ClinVar
OMIM		 PMID:12417524 PMID:12417525 PMID:16200213 PMID:16806135 PMID:18324930 More... NCBI chrNW_004955412:18,128,861...18,131,752
Ensembl chrNW_004955412:18,129,603...18,131,115 		JBrowse link
HYPERTRIGLYCERIDEMIA 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 susceptibility ISO ClinVar Annotator: match by term: Hypertriglyceridemia 1 ClinVar
OMIM		 PMID:11588264 PMID:12417524 PMID:12417525 PMID:12915450 PMID:18324930 More... NCBI chrNW_004955412:18,128,861...18,131,752
Ensembl chrNW_004955412:18,129,603...18,131,115 		JBrowse link
G Creb3l3 cAMP responsive element binding protein 3 like 3 ISO ClinVar Annotator: match by term: Hypertriglyceridemia 1 ClinVar PMID:21666694 PMID:25741868 PMID:28492532 PMID:31619059 PMID:32041611 NCBI chrNW_004955495:4,651,086...4,670,852
Ensembl chrNW_004955495:4,651,369...4,661,139 		JBrowse link
G Lipi lipase I ISO ClinVar Annotator: match by term: Hypertriglyceridemia 1 ClinVar PMID:12719377 PMID:28492532 NCBI chrNW_004955407:16,013,285...16,071,187
Ensembl chrNW_004955407:16,012,264...16,056,796 		JBrowse link
G Rp1 RP1 axonemal microtubule associated ISO ClinVar Annotator: match by term: Hypertriglyceridemia 1 ClinVar PMID:12764676 PMID:20664799 PMID:25741868 PMID:28492532 NCBI chrNW_004955454:13,781,556...14,082,310 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 PMID:32041611 NCBI chrNW_004955495:4,651,086...4,670,852
Ensembl chrNW_004955495:4,651,369...4,661,139 		JBrowse link
Hypertriglyceridemia, Transient Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpd1 glycerol-3-phosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: GPD1-related condition | ClinVar Annotator: match by term: Hypertriglyceridemia, transient infantile OMIM
ClinVar		 PMID:22226083 PMID:24549054 PMID:25741868 PMID:28492532 PMID:32591995 More... NCBI chrNW_004955547:676,661...683,906
Ensembl chrNW_004955547:676,342...690,777 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Nutritional and Metabolic Diseases 6694
      disease of metabolism 6694
        lipid metabolism disorder 1461
          familial hyperlipidemia 237
            Hypertriglyceridemia 78
              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 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        genetic disease 15939
          inherited metabolic disorder 5142
            lipid metabolism disorder 1461
              Dyslipidemias 265
                familial hyperlipidemia 237
                  Hypertriglyceridemia 78
                    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