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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


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 Acaca acetyl-CoA carboxylase alpha treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457 		JBrowse link
G Acacb acetyl-CoA carboxylase beta treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655 		JBrowse link
G Acot1 acyl-CoA thioesterase 1 treatment IDA RGD PMID:23994635 RGD:13831127 NCBI chr 6:103,636,173...103,644,167
Ensembl chr 6:103,636,041...103,644,163 		JBrowse link
G Acp1 acid phosphatase 1 ISO associated with Obesity RGD PMID:12409270 RGD:1625288 NCBI chr 6:47,506,380...47,522,021
Ensembl chr 6:47,506,380...47,522,021 		JBrowse link
G Ada adenosine deaminase treatment IEP RGD PMID:30280312 RGD:152995395 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with HIV Infections RGD PMID:21595566 RGD:8694463 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Adrb2 adrenoceptor beta 2 ISO GAD PMID:15118671 RGD:1331525 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512 		JBrowse link
G Ahr aryl hydrocarbon receptor treatment IEP RGD PMID:23644946 RGD:401794573 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Ahsg alpha-2-HS-glycoprotein ISO protein:increased expression:serum RGD PMID:19228823 RGD:2313809 NCBI chr11:78,121,388...78,127,998
Ensembl chr11:78,117,918...78,145,999 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32045588 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Angptl3 angiopoietin-like 3 ISO RGD PMID:12672813 RGD:1578347 NCBI chr 5:113,703,007...113,710,044
Ensembl chr 5:113,703,012...113,709,957 		JBrowse link
G Angptl4 angiopoietin-like 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28842503 NCBI chr 7:14,550,288...14,557,797
Ensembl chr 7:14,550,311...14,556,519 		JBrowse link
G Apoa1 apolipoprotein A1 no_association
treatment		 ISO
IEP		 DNA:polymorphism:promoter:-75G>A RGD PMID:7910586 PMID:23644946 RGD:1601187, RGD:401794573 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Apoa2 apolipoprotein A2 ISO DNA:polymorphism RGD PMID:9489233 RGD:1601190 NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355 		JBrowse link
G Apoa4 apolipoprotein A4 ISO human gene in mouse model RGD PMID:2167514 RGD:5685672 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Apoa5 apolipoprotein A5 IEP
ISO		 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:25741868 PMID:31358993 NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO associated with Pancreatitis;DNA:missense mutation, haplotype: :p.I556V (human) RGD PMID:17981921 RGD:11566035 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: therapeutic CTD PMID:11893366 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 treatment IEP RGD PMID:23644946 RGD:401794573 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 treatment ISO RGD PMID:18183944 RGD:10401058 NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299 		JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428 		JBrowse link
G F7 coagulation factor VII ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) RGD PMID:19329212 RGD:2312379 NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610 		JBrowse link
G Fabp2 fatty acid binding protein 2 ISO associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.A54T (human) RGD PMID:16919542 PMID:10999802 RGD:1626401, RGD:1300313 NCBI chr 2:211,040,032...211,044,089
Ensembl chr 2:211,040,032...211,044,089 		JBrowse link
G Fasn fatty acid synthase treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment IEP RGD PMID:22947172 RGD:10449176 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gckr glucokinase regulator susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertriglyceridemia
DNA:SNPs,haplotypes: (rs780094) (human)		 CTD
ClinVar
RGD		 PMID:20657596 PMID:22182842 PMID:25741868 PMID:28492532 PMID:27599772 RGD:401794577 NCBI chr 6:25,044,592...25,075,834
Ensembl chr 6:25,045,100...25,075,654 		JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO RGD PMID:11118009 RGD:1625423 NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471 		JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639 		JBrowse link
G Gpr55 G protein-coupled receptor 55 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30148676 NCBI chr 9:86,584,906...86,640,601
Ensembl chr 9:86,590,885...86,640,613 		JBrowse link
G Gpx3 glutathione peroxidase 3 ISO associated with coronary artery disease;DNA:SNP: :rs3828599 (human) RGD PMID:31396447 RGD:401827159 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO RGD PMID:16804065 RGD:1601642 NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320 		JBrowse link
G Il6st interleukin 6 cytokine family signal transducer IDA RGD PMID:8843746 RGD:1626687 NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Insig1 insulin induced gene 1 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chr 4:7,315,494...7,323,972
Ensembl chr 4:7,315,495...7,323,952 		JBrowse link
G Insig2 insulin induced gene 2 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chr13:32,472,390...32,500,139
Ensembl chr13:32,473,742...32,494,923 		JBrowse link
G Lamc1 laminin subunit gamma 1 susceptibility ISO DNA:SNPs,haplotypes: (rs10911205) (human) RGD PMID:27599772 RGD:401794577 NCBI chr13:65,374,372...65,501,492
Ensembl chr13:65,374,372...65,501,492 		JBrowse link
G Lcat lecithin cholesterol acyltransferase ISO RGD PMID:14668345 RGD:1581782 NCBI chr19:33,834,748...33,838,214
Ensembl chr19:33,834,403...33,838,231 		JBrowse link
G Ldlr low density lipoprotein receptor IMP RGD PMID:28469073 PMID:27378433 RGD:12910100, RGD:12910104 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Ldlrem1 low density lipoprotein receptor; ZFN induced mutant 1 IMP RGD PMID:27378433 RGD:12910104
G Ldlrem1Sage low density lipoprotein receptor; ZFN induced mutant 1, Sage IMP RGD PMID:28469073 RGD:12910100
G Lep leptin IMP RGD PMID:22948215 RGD:12904911 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lepem1Sage leptin; zinc finger nuclease induced mutant1, Sage IMP RGD PMID:22948215 RGD:12904911
G Lipc lipase C, hepatic type ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human) RGD PMID:187516 RGD:2308846 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		JBrowse link
G Lipe lipase E, hormone sensitive type IDA RGD PMID:11016888 RGD:2313581 NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310 		JBrowse link
G Lipi lipase I susceptibility ISO DNA:polymorphism: :p.C55Y RGD PMID:12719377 RGD:1625450 NCBI chr11:14,189,323...14,228,992
Ensembl chr11:14,189,323...14,228,985 		JBrowse link
G Lmf1 lipase maturation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17994020 NCBI chr10:14,597,726...14,684,071
Ensembl chr10:14,597,594...14,684,119 		JBrowse link
G Lpl lipoprotein lipase susceptibility IDA
ISO		 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 Mlxipl MLX interacting protein-like treatment
susceptibility		 IEP
ISO		 DNA:SNPs,haplotypes: (rs17145738) (human) RGD PMID:26394137 PMID:27599772 RGD:329955565, RGD:401794577 NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112 		JBrowse link
G Mlycd malonyl-CoA decarboxylase treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793 		JBrowse link
G Mtor mechanistic target of rapamycin kinase IMP associated with Insulin Resistance RGD PMID:20566415 RGD:10040984 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 IEP associated with obesity RGD PMID:20729114 RGD:13801195 NCBI chr 5:55,400,543...55,410,110
Ensembl chr 5:55,400,543...55,410,181 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:decreased expression:aorta RGD PMID:17824809 RGD:2292131 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nr4a1 nuclear receptor subfamily 4, group A, member 1 IMP compared to FHH RGD PMID:24722447 RGD:12910103 NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297 		JBrowse link
G Nr4a1m1Mcwi nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin IMP compared to FHH RGD PMID:24722447 RGD:12910103
G Pde5a phosphodiesterase 5A IMP RGD PMID:18787522 RGD:2314464 NCBI chr 2:210,858,515...211,003,480
Ensembl chr 2:210,858,063...210,999,701 		JBrowse link
G Pklr pyruvate kinase L/R treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870 		JBrowse link
G Plin2 perilipin 2 ISO associated with Obesity RGD PMID:17484887 RGD:1625752 NCBI chr 5:101,156,648...101,211,738
Ensembl chr 5:101,154,411...101,242,319 		JBrowse link
G Pltp phospholipid transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr 3:153,574,825...153,592,647
Ensembl chr 3:153,574,825...153,592,647 		JBrowse link
G Pon1 paraoxonase 1 treatment IEP RGD PMID:23644946 RGD:401794573 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Ppargc1b PPARG coactivator 1 beta treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr18:54,758,891...54,861,103
Ensembl chr18:54,758,902...54,861,194 		JBrowse link
G Rbp4 retinol binding protein 4 ISO protein:increased expression:blood serum (human) RGD PMID:29747616 RGD:329849113 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399 		JBrowse link
G Rps12 ribosomal protein S12 IEP associated with Metabolic Syndrome X;mRNA:increased expression:liver RGD PMID:25294893 RGD:11039460 NCBI chr 1:21,680,854...21,683,010
Ensembl chr 1:21,680,852...21,683,014 		JBrowse link
G Scd stearoyl-CoA desaturase treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562 		JBrowse link
G Serpinf2 serpin family F member 2 ISO protein:increased expression:plasma RGD PMID:9207984 RGD:1625533 NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383 		JBrowse link
G Socs3 suppressor of cytokine signaling 3 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787 		JBrowse link
G Sod2 superoxide dismutase 2 ISO associated with coronary artery disease;DNA:SNP: :rs4880 (human) RGD PMID:31396447 RGD:401827159 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Sod3 superoxide dismutase 3 ISO associated with coronary artery disease;DNA:SNP: :rs2536512, rs2855262 (human) RGD PMID:31396447 RGD:401827159 NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650 		JBrowse link
G Trib1 tribbles pseudokinase 1 susceptibility ISO DNA:SNPs,haplotypes: (rs6982502) (human) RGD PMID:27599772 RGD:401794577 NCBI chr 7:91,206,579...91,213,126
Ensembl chr 7:91,206,579...91,214,731 		JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO DNA:SNP:intron:g.59080C>T (rs11070811) (human) RGD PMID:21439949 RGD:7175561 NCBI chr 1:117,718,896...117,835,434
Ensembl chr 1:117,718,896...117,834,605 		JBrowse link
G Txnip thioredoxin interacting protein susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:3' utr RGD PMID:17381501 RGD:1642750 NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886 		JBrowse link
G Vldlr very low density lipoprotein receptor IEP associated with Kidney Failure, Chronic;mRNA, protein:decreased expression:adipose tissue, skeletal muscle RGD PMID:9507207 RGD:1625577 NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920 		JBrowse link
G Xbp1 X-box binding protein 1 treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693 		JBrowse link
hyperlipoproteinemia type IV 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
OMIM		 NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816 		JBrowse link
hyperlipoproteinemia type V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial type 5 hyperlipoproteinemia		 CTD
OMIM
ClinVar		 PMID:12417524 PMID:12417525 PMID:16200213 PMID:16806135 PMID:18324930 More... NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816 		JBrowse link
HYPERTRIGLYCERIDEMIA 1 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: Hypertriglyceridemia 1 ClinVar
OMIM		 PMID:11588264 PMID:12417524 PMID:12417525 PMID:12915450 PMID:18324930 More... NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816 		JBrowse link
G Creb3l3 cAMP responsive element binding protein 3-like 3 ISO ClinVar Annotator: match by term: Hypertriglyceridemia 1 ClinVar PMID:21666694 PMID:25741868 PMID:26046366 PMID:28492532 PMID:31619059 More... NCBI chr 7:8,622,614...8,631,053
Ensembl chr 7:8,622,614...8,631,048 		JBrowse link
G Lipi lipase I ISO ClinVar Annotator: match by term: Hypertriglyceridemia 1 ClinVar PMID:12719377 PMID:25741868 PMID:28492532 NCBI chr11:14,189,323...14,228,992
Ensembl chr11:14,189,323...14,228,985 		JBrowse link
G Rp1 RP1, axonemal microtubule associated ISO ClinVar Annotator: match by term: Hypertriglyceridemia 1 ClinVar PMID:12764676 PMID:20664799 PMID:25741868 PMID:28492532 NCBI chr 5:15,121,104...15,582,363
Ensembl chr 5:15,121,133...15,579,363 		JBrowse link
G Zpr1 ZPR1 zinc finger ISO ClinVar Annotator: match by term: Hypertriglyceridemia 1 ClinVar PMID:25741868 NCBI chr 8:46,564,898...46,574,719
Ensembl chr 8:46,565,146...46,574,719 		JBrowse link
HYPERTRIGLYCERIDEMIA 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creb3l3 cAMP responsive element binding protein 3-like 3 ISO ClinVar Annotator: match by term: Hypertriglyceridemia 2 OMIM
ClinVar		 PMID:21666694 PMID:25741868 PMID:26046366 PMID:26427795 PMID:28492532 More... NCBI chr 7:8,622,614...8,631,053
Ensembl chr 7:8,622,614...8,631,048 		JBrowse link
Hypertriglyceridemia, Transient Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpd1 glycerol-3-phosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: GPD1-related condition | ClinVar Annotator: match by term: Hypertriglyceridemia, transient infantile OMIM
ClinVar		 PMID:22226083 PMID:24549054 PMID:25741868 PMID:27368975 PMID:28492532 More... NCBI chr 7:130,842,526...130,851,530
Ensembl chr 7:130,844,138...130,851,529 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    Nutritional and Metabolic Diseases 8520
      disease of metabolism 8520
        lipid metabolism disorder 1900
          familial hyperlipidemia 385
            Hypertriglyceridemia 124
              HYPERTRIGLYCERIDEMIA 1 5
              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 19100
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          inherited metabolic disorder 6605
            lipid metabolism disorder 1900
              Dyslipidemias 418
                familial hyperlipidemia 385
                  Hypertriglyceridemia 124
                    HYPERTRIGLYCERIDEMIA 1 5
                    HYPERTRIGLYCERIDEMIA 2 1
                    Hypertriglyceridemia, Transient Infantile 1
                    Hypertriglyceridemic Waist 0
                    hyperlipoproteinemia type IV 1
                    hyperlipoproteinemia type V 1
paths to the root