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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 ISO RGD PMID:26394137 RGD:329955565 NCBI chr17:37,084,992...37,406,836
Ensembl chr17:37,084,992...37,406,836 		JBrowse link
G ACACB acetyl-CoA carboxylase beta treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr12:109,111,189...109,268,226
Ensembl chr12:109,116,587...109,268,226 		JBrowse link
G ACOT1 acyl-CoA thioesterase 1 treatment ISO RGD PMID:23994635 RGD:13831127 NCBI chr14:73,490,933...73,543,796
Ensembl chr14:73,537,143...73,543,796 		JBrowse link
G ACP1 acid phosphatase 1 IAGP associated with Obesity RGD PMID:12409270 RGD:1625288 NCBI chr 2:264,947...278,283
Ensembl chr 2:264,140...278,283 		JBrowse link
G ADA adenosine deaminase treatment ISO RGD PMID:30280312 RGD:152995395 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing IAGP associated with HIV Infections RGD PMID:21595566 RGD:8694463 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G ADRB2 adrenoceptor beta 2 IEA GAD PMID:15118671 RGD:1331525 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623 		JBrowse link
G AHR aryl hydrocarbon receptor treatment ISO RGD PMID:23644946 RGD:401794573 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152 		JBrowse link
G AHSG alpha 2-HS glycoprotein IEP protein:increased expression:serum RGD PMID:19228823 RGD:2313809 NCBI chr 3:186,613,060...186,621,318
Ensembl chr 3:186,613,060...186,621,318 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:32045588 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G ANGPTL3 angiopoietin like 3 ISO RGD PMID:12672813 RGD:1578347 NCBI chr 1:62,597,520...62,606,313
Ensembl chr 1:62,597,520...62,606,313 		JBrowse link
G ANGPTL4 angiopoietin like 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28842503 NCBI chr19:8,364,155...8,374,370
Ensembl chr19:8,363,289...8,374,370 		JBrowse link
G APOA1 apolipoprotein A1 no_association
treatment		 IAGP
ISO		 DNA:polymorphism:promoter:-75G>A RGD PMID:7910586 PMID:23644946 RGD:1601187, RGD:401794573 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G APOA2 apolipoprotein A2 IAGP DNA:polymorphism RGD PMID:9489233 RGD:1601190 NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,292...161,223,631 		JBrowse link
G APOA4 apolipoprotein A4 IMP human gene in mouse model RGD PMID:2167514 RGD:5685672 NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304 		JBrowse link
G APOA5 apolipoprotein A5 ISO
IAGP
EXP		 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:2313317, RGD:1578414 NCBI chr11:116,789,367...116,792,420
Ensembl chr11:116,789,367...116,792,420 		JBrowse link
G APOB apolipoprotein B ISO
EXP		 protein:increased expression:plasma (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20657596 PMID:8121310 RGD:11353966 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G APOC1 apolipoprotein C1 IEP protein:increased expression:plasma RGD PMID:3757210 RGD:2313953 NCBI chr19:44,914,325...44,919,346
Ensembl chr19:44,914,247...44,919,349 		JBrowse link
G APOC2 apolipoprotein C2 susceptibility IAGP
IDA		 RGD PMID:7590197 PMID:3944267 RGD:1601205, RGD:1601214 NCBI chr19:44,946,051...44,949,565
Ensembl chr19:44,946,035...44,949,565 		JBrowse link
G APOC3 apolipoprotein C3 susceptibility IAGP associated with Diabetes Mellitus, Non-Insulin-Dependent or Coronary Disease;DNA:polymorphism RGD PMID:7705829 PMID:15715433 RGD:1578444, RGD:2306767 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072 		JBrowse link
G APOE apolipoprotein E susceptibility IAGP
ISO
IEA		 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 chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G BCHE butyrylcholinesterase IEP
EXP		 associated with diabetes mellitus
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23000450 PMID:8149699 RGD:1601335 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462 		JBrowse link
G CELA2A chymotrypsin like elastase 2A IAGP ClinVar Annotator: match by term: Hypertriglyceridemia ClinVar PMID:25741868 PMID:31358993 NCBI chr 1:15,456,732...15,472,091
Ensembl chr 1:15,456,728...15,472,091 		JBrowse link
G CETP cholesteryl ester transfer protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr16:56,961,950...56,983,845
Ensembl chr16:56,961,923...56,983,845 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP associated with Pancreatitis;DNA:missense mutation, haplotype: :p.I556V (human) RGD PMID:17981921 RGD:11566035 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CRP C-reactive protein EXP CTD Direct Evidence: therapeutic CTD PMID:11893366 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 treatment ISO RGD PMID:23644946 RGD:401794573 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536 		JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 treatment ISO RGD PMID:18183944 RGD:10401058 NCBI chr 8:144,314,584...144,326,852
Ensembl chr 8:144,314,584...144,326,910 		JBrowse link
G DGAT2 diacylglycerol O-acyltransferase 2 treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr11:75,768,778...75,801,534
Ensembl chr11:75,759,512...75,801,535 		JBrowse link
G F7 coagulation factor VII IEP associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) RGD PMID:19329212 RGD:2312379 NCBI chr13:113,105,788...113,120,685
Ensembl chr13:113,105,788...113,120,685 		JBrowse link
G FABP2 fatty acid binding protein 2 IAGP 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:16919542 PMID:10999802 RGD:1626401, RGD:1300313 NCBI chr 4:119,317,250...119,322,138
Ensembl chr 4:119,317,250...119,322,138 		JBrowse link
G FASN fatty acid synthase treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr17:82,078,338...82,098,236
Ensembl chr17:82,078,338...82,098,294 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:22947172 RGD:10449176 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572 		JBrowse link
G GCKR glucokinase regulator susceptibility EXP
IAGP		 CTD Direct Evidence: marker/mechanism
DNA:SNPs,haplotypes: (rs780094) (human)
ClinVar Annotator: match by term: Hypertriglyceridemia		 CTD
ClinVar
RGD		 PMID:20657596 PMID:22182842 PMID:25741868 PMID:28492532 PMID:27599772 RGD:401794577 NCBI chr 2:27,496,839...27,523,684
Ensembl chr 2:27,496,839...27,523,684 		JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 IDA RGD PMID:11118009 RGD:1625423 NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,780...69,387,250 		JBrowse link
G GPAM glycerol-3-phosphate acyltransferase, mitochondrial treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr10:112,149,865...112,227,677
Ensembl chr10:112,149,865...112,215,377 		JBrowse link
G GPR55 G protein-coupled receptor 55 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30148676 NCBI chr 2:230,907,328...230,961,201
Ensembl chr 2:230,907,318...230,961,066 		JBrowse link
G GPX3 glutathione peroxidase 3 IAGP associated with coronary artery disease;DNA:SNP: :rs3828599 (human) RGD PMID:31396447 RGD:401827159 NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988 		JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP Finnish and Mexican populations; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1A (1-1-2) RGD PMID:16804065 RGD:1601642 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845 		JBrowse link
G IFNA2 interferon alpha 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12643008 NCBI chr 9:21,384,255...21,385,398
Ensembl chr 9:21,384,255...21,385,398 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer ISO RGD PMID:8843746 RGD:1626687 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G INS insulin EXP CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G INSIG1 insulin induced gene 1 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chr 7:155,297,878...155,310,235
Ensembl chr 7:155,297,776...155,310,235 		JBrowse link
G INSIG2 insulin induced gene 2 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chr 2:118,088,471...118,110,997
Ensembl chr 2:118,088,452...118,110,997 		JBrowse link
G LAMC1 laminin subunit gamma 1 susceptibility IAGP DNA:SNPs,haplotypes: (rs10911205) (human) RGD PMID:27599772 RGD:401794577 NCBI chr 1:183,023,420...183,145,592
Ensembl chr 1:183,023,420...183,145,592 		JBrowse link
G LCAT lecithin-cholesterol acyltransferase ISO RGD PMID:14668345 RGD:1581782 NCBI chr16:67,939,750...67,944,120
Ensembl chr16:67,939,750...67,944,131 		JBrowse link
G LDLR low density lipoprotein receptor ISO RGD PMID:28469073 PMID:27378433 RGD:12910100, RGD:12910104 NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820 		JBrowse link
G LEP leptin ISO RGD PMID:22948215 RGD:12904911 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629 		JBrowse link
G LIPC lipase C, hepatic type IEP associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human) RGD PMID:187516 RGD:2308846 NCBI chr15:58,431,991...58,569,844
Ensembl chr15:58,410,569...58,569,844 		JBrowse link
G LIPE lipase E, hormone sensitive type ISO RGD PMID:11016888 RGD:2313581 NCBI chr19:42,401,514...42,427,388
Ensembl chr19:42,401,514...42,427,388 		JBrowse link
G LIPI lipase I susceptibility IAGP DNA:polymorphism: :p.C55Y RGD PMID:12719377 RGD:1625450 NCBI chr21:14,108,812...14,210,955
Ensembl chr21:14,108,813...14,210,955 		JBrowse link
G LMF1 lipase maturation factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17994020 NCBI chr16:853,634...981,613
Ensembl chr16:853,634...981,318 		JBrowse link
G LPL lipoprotein lipase susceptibility IAGP
EXP
ISO		 ClinVar Annotator: match by term: Hypertriglyceridemia
CTD Direct Evidence: marker/mechanism|therapeutic		 ClinVar
CTD
RGD		 PMID:8147947 PMID:20657596 PMID:25741868 PMID:17848837 PMID:16431216 More... RGD:2313305, RGD:1580533, RGD:2313581 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259 		JBrowse link
G LTA lymphotoxin alpha susceptibility
no_association		 IAGP associated with Diabetes Mellitus, Non-Insulin-Dependent
DNA:polymorphism		 RGD PMID:7783649 PMID:9245742 RGD:1625036, RGD:1625035 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:32045588 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		JBrowse link
G MLXIPL MLX interacting protein like treatment
susceptibility		 ISO
IAGP		 DNA:SNPs,haplotypes: (rs17145738) (human) RGD PMID:26394137 PMID:27599772 RGD:329955565, RGD:401794577 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G MLYCD malonyl-CoA decarboxylase treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr16:83,899,115...83,927,031
Ensembl chr16:83,899,115...83,951,445 		JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO associated with Insulin Resistance RGD PMID:20566415 RGD:10040984 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 ISO associated with obesity RGD PMID:20729114 RGD:13801195 NCBI chr 9:32,553,001...32,573,159
Ensembl chr 9:32,553,001...32,573,184 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:decreased expression:aorta RGD PMID:17824809 RGD:2292131 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NR4A1 nuclear receptor subfamily 4 group A member 1 ISO compared to FHH RGD PMID:24722447 RGD:12910103 NCBI chr12:52,022,832...52,059,503
Ensembl chr12:52,022,832...52,059,507 		JBrowse link
G PDE5A phosphodiesterase 5A ISO RGD PMID:18787522 RGD:2314464 NCBI chr 4:119,494,403...119,628,804
Ensembl chr 4:119,494,397...119,628,804 		JBrowse link
G PKLR pyruvate kinase L/R treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr 1:155,289,293...155,308,654
Ensembl chr 1:155,289,293...155,301,438 		JBrowse link
G PLIN2 perilipin 2 ISO associated with Obesity RGD PMID:17484887 RGD:1625752 NCBI chr 9:19,108,388...19,127,492
Ensembl chr 9:19,108,375...19,149,290 		JBrowse link
G PLTP phospholipid transfer protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr20:45,898,620...45,912,155
Ensembl chr20:45,898,621...45,912,155 		JBrowse link
G PON1 paraoxonase 1 treatment ISO RGD PMID:23644946 RGD:401794573 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G PPARA peroxisome proliferator activated receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
G PPARGC1B PPARG coactivator 1 beta treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr 5:149,730,310...149,857,959
Ensembl chr 5:149,730,298...149,855,022 		JBrowse link
G RBP4 retinol binding protein 4 IEP protein:increased expression:blood serum (human) RGD PMID:29747616 RGD:329849113 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744 		JBrowse link
G RPS12 ribosomal protein S12 ISO associated with Metabolic Syndrome X;mRNA:increased expression:liver RGD PMID:25294893 RGD:11039460 NCBI chr 6:132,814,569...132,817,564
Ensembl chr 6:132,814,569...132,817,564 		JBrowse link
G SCD stearoyl-CoA desaturase treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr10:100,347,233...100,364,826
Ensembl chr10:100,347,233...100,364,826 		JBrowse link
G SERPINF2 serpin family F member 2 IEP protein:increased expression:plasma RGD PMID:9207984 RGD:1625533 NCBI chr17:1,742,871...1,755,265
Ensembl chr17:1,742,836...1,755,265 		JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204 		JBrowse link
G SOCS3 suppressor of cytokine signaling 3 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr17:78,356,778...78,360,925
Ensembl chr17:78,356,778...78,360,077 		JBrowse link
G SOD2 superoxide dismutase 2 IAGP associated with coronary artery disease;DNA:SNP: :rs4880 (human) RGD PMID:31396447 RGD:401827159 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G SOD3 superoxide dismutase 3 IAGP associated with coronary artery disease;DNA:SNP: :rs2536512, rs2855262 (human) RGD PMID:31396447 RGD:401827159 NCBI chr 4:24,795,573...24,800,842
Ensembl chr 4:24,789,912...24,800,842 		JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002 		JBrowse link
G TRIB1 tribbles pseudokinase 1 susceptibility IAGP DNA:SNPs,haplotypes: (rs6982502) (human) RGD PMID:27599772 RGD:401794577 NCBI chr 8:125,430,358...125,438,403
Ensembl chr 8:125,430,358...125,438,403 		JBrowse link
G TRPM1 transient receptor potential cation channel subfamily M member 1 IAGP DNA:SNP:intron:g.59080C>T (rs11070811) (human) RGD PMID:21439949 RGD:7175561 NCBI chr15:31,001,065...31,161,160
Ensembl chr15:31,001,065...31,161,160 		JBrowse link
G TXNIP thioredoxin interacting protein susceptibility IAGP associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:3' utr RGD PMID:17381501 RGD:1642750 NCBI chr 1:145,992,435...145,996,579
Ensembl chr 1:145,992,435...145,996,579 		JBrowse link
G VLDLR very low density lipoprotein receptor ISO associated with Kidney Failure, Chronic;mRNA, protein:increased expression:adipose tissue, skeletal muscle RGD PMID:9507207 RGD:1625577 NCBI chr 9:2,621,787...2,660,056
Ensembl chr 9:2,621,182...2,660,056 		JBrowse link
G XBP1 X-box binding protein 1 treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr22:28,794,560...28,800,569
Ensembl chr22:28,794,555...28,800,597 		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 EXP
IAGP		 CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chr11:116,789,367...116,792,420
Ensembl chr11:116,789,367...116,792,420 		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 IAGP
EXP		 ClinVar Annotator: match by term: Familial type 5 hyperlipoproteinemia
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:12417524 PMID:12417525 PMID:16200213 PMID:16806135 PMID:18324930 More... NCBI chr11:116,789,367...116,792,420
Ensembl chr11:116,789,367...116,792,420 		JBrowse link
G LOC108491825 enhancer-blocking element 11-1-2 overlapping APOA5 IAGP ClinVar Annotator: match by term: Familial type 5 hyperlipoproteinemia ClinVar PMID:12417524 PMID:12417525 PMID:25741868 PMID:28492532 NCBI chr11:116,791,046...116,792,831 JBrowse link
HYPERTRIGLYCERIDEMIA 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA5 apolipoprotein A5 IAGP ClinVar Annotator: match by term: Hypertriglyceridemia 1 ClinVar
OMIM		 PMID:11588264 PMID:12417524 PMID:12417525 PMID:12915450 PMID:18324930 More... NCBI chr11:116,789,367...116,792,420
Ensembl chr11:116,789,367...116,792,420 		JBrowse link
G CREB3L3 cAMP responsive element binding protein 3 like 3 IAGP ClinVar Annotator: match by term: Hypertriglyceridemia 1 ClinVar PMID:21666694 PMID:25741868 PMID:28492532 PMID:31619059 PMID:32041611 NCBI chr19:4,153,631...4,173,054
Ensembl chr19:4,153,631...4,173,054 		JBrowse link
G LIPI lipase I IAGP ClinVar Annotator: match by term: Hypertriglyceridemia 1 ClinVar PMID:12719377 PMID:28492532 NCBI chr21:14,108,812...14,210,955
Ensembl chr21:14,108,813...14,210,955 		JBrowse link
G LOC108491825 enhancer-blocking element 11-1-2 overlapping APOA5 IAGP ClinVar Annotator: match by term: Hypertriglyceridemia 1 ClinVar PMID:12417524 PMID:12417525 PMID:25741868 PMID:28492532 NCBI chr11:116,791,046...116,792,831 JBrowse link
G RP1 RP1 axonemal microtubule associated IAGP ClinVar Annotator: match by term: Hypertriglyceridemia 1 ClinVar PMID:12764676 PMID:20664799 PMID:25741868 PMID:28492532 NCBI chr 8:54,559,185...54,871,234
Ensembl chr 8:54,509,422...54,871,720 		JBrowse link
G ZPR1 ZPR1 zinc finger IAGP ClinVar Annotator: match by term: Hypertriglyceridemia 1 ClinVar PMID:25741868 NCBI chr11:116,773,799...116,788,023
Ensembl chr11:116,773,799...116,788,039 		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 IAGP ClinVar Annotator: match by term: Hypertriglyceridemia 2 ClinVar
OMIM		 PMID:21666694 PMID:25741868 PMID:26427795 PMID:28492532 PMID:32041611 NCBI chr19:4,153,631...4,173,054
Ensembl chr19:4,153,631...4,173,054 		JBrowse link
G LOC125371455 Sharpr-MPRA regulatory region 11650 IAGP ClinVar Annotator: match by term: Hypertriglyceridemia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:4,171,732...4,172,026 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 IAGP
EXP		 ClinVar Annotator: match by term: Hypertriglyceridemia, transient infantile
ClinVar Annotator: match by term: GPD1-related condition | ClinVar Annotator: match by term: Hypertriglyceridemia, transient infantile
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:22226083 PMID:24549054 PMID:25741868 PMID:28492532 PMID:32591995 More... NCBI chr12:50,104,008...50,111,313
Ensembl chr12:50,103,982...50,111,313 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35756
    Nutritional and Metabolic Diseases 10577
      disease of metabolism 10577
        lipid metabolism disorder 1839
          familial hyperlipidemia 332
            Hypertriglyceridemia 106
              HYPERTRIGLYCERIDEMIA 1 6
              HYPERTRIGLYCERIDEMIA 2 2
              Hypertriglyceridemia, Transient Infantile 1
              Hypertriglyceridemic Waist 0
              hyperlipoproteinemia type IV 7
              hyperlipoproteinemia type V 2
Path 2
Term Annotations click to browse term
  disease 35756
    Developmental Disease 28613
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24648
        genetic disease 23840
          inherited metabolic disorder 7908
            lipid metabolism disorder 1839
              Dyslipidemias 369
                familial hyperlipidemia 332
                  Hypertriglyceridemia 106
                    HYPERTRIGLYCERIDEMIA 1 6
                    HYPERTRIGLYCERIDEMIA 2 2
                    Hypertriglyceridemia, Transient Infantile 1
                    Hypertriglyceridemic Waist 0
                    hyperlipoproteinemia type IV 7
                    hyperlipoproteinemia type V 2
paths to the root