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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:Dyslipidemias
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Accession:DOID:9003370 term browser browse the term
Definition:Abnormalities in the serum levels of LIPIDS, including overproduction or deficiency. Abnormal serum lipid profiles may include high total CHOLESTEROL, high TRIGLYCERIDES, low HIGH DENSITY LIPOPROTEIN CHOLESTEROL, and elevated LOW DENSITY LIPOPROTEIN CHOLESTEROL.
Synonyms:exact_synonym: Dyslipidemia;   Dyslipoproteinemia;   Dyslipoproteinemias
 related_synonym: HDLCQ12;   HDLCQ6;   high density lipoprotein cholesterol level quantitative trait locus 12;   high density lipoprotein cholesterol level quantitative trait locus 6
 primary_id: MESH:D050171
 alt_id: OMIM:610762;   OMIM:612797;   RDO:0000386
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Dyslipidemias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG5 ATP binding cassette subfamily G member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19060911 NCBI chr 3:96,616,304...96,656,893
Ensembl chr 3:96,616,246...96,656,893
JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21890736 NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943
JBrowse link
G ANGPTL4 angiopoietin like 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17322881 NCBI chr 2:70,905,767...70,912,892
Ensembl chr 2:70,904,531...70,912,974
JBrowse link
G APOB apolipoprotein B ISO CTD Direct Evidence: therapeutic CTD PMID:18230960 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyslipidemia
CTD
ClinVar
PMID:25037058 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
G ATP7B ATPase copper transporting beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303181 NCBI chr11:15,892,549...15,942,070 JBrowse link
G BCL3 BCL3 transcription coactivator ISO CTD Direct Evidence: marker/mechanism CTD PMID:29670124 NCBI chr 6:51,256,033...51,264,923
Ensembl chr 6:51,256,033...51,265,355
JBrowse link
G DNAH11 dynein axonemal heavy chain 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19060911 NCBI chr 9:90,420,044...90,768,327
Ensembl chr 9:90,423,077...90,767,487
JBrowse link
G HP haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G KLF14 Kruppel like factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29632379 NCBI chr18:18,147,124...18,149,177
Ensembl chr18:18,147,124...18,149,177
JBrowse link
G LDLR low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20530721 NCBI chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,823
JBrowse link
G LEP leptin ISO protein:altered expression: serum (rat) RGD PMID:29089335 RGD:21410183 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,447
JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:20567778, PMID:26537785, PMID:29988851 RGD:12911216 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,798,979...146,896,108
JBrowse link
G LIPC lipase C, hepatic type ISO OMIM NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,679...113,604,306
JBrowse link
G LPL lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952847 NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814
JBrowse link
G MACO1 macoilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19060911 NCBI chr 6:82,934,083...82,995,688
Ensembl chr 6:82,933,826...82,997,154
JBrowse link
G NADSYN1 NAD synthetase 1 susceptibility ISO DNA:SNP: :rs12785878 G>T(human) RGD PMID:24073860 RGD:13703112 NCBI chr 2:2,334,793...2,372,356
Ensembl chr 2:2,334,793...2,372,355
JBrowse link
G NECTIN2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29670124 NCBI chr 6:51,317,386...51,358,665 JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448 NCBI chr 7:58,261,761...58,269,001
Ensembl chr 7:58,261,761...58,283,092
JBrowse link
G NR5A2 nuclear receptor subfamily 5 group A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29515023 NCBI chr10:22,727,865...22,866,905
Ensembl chr10:22,715,735...22,866,904
JBrowse link
G PEX11A peroxisomal biogenesis factor 11 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30585412 NCBI chr 7:55,256,239...55,264,253
Ensembl chr 7:55,255,675...55,320,357
JBrowse link
G PLTP phospholipid transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952847 NCBI chr17:48,089,789...48,101,604
Ensembl chr17:48,089,785...48,101,515
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: therapeutic CTD PMID:16168052 NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,708...3,366,361
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: therapeutic CTD PMID:16168052 NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,655...68,433,947
JBrowse link
G SCARB1 scavenger receptor class B member 1 ISO OMIM NCBI chr14:28,301,421...28,393,568
Ensembl chr14:28,301,294...28,393,565
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:23295061 RGD:7241091 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
JBrowse link
G TOMM40 translocase of outer mitochondrial membrane 40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29670124 NCBI chr 6:51,359,948...51,369,932
Ensembl chr 6:51,359,689...51,369,923
JBrowse link
G VNN1 vanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17873875 NCBI chr 1:31,003,338...31,023,731
Ensembl chr 1:31,000,254...31,059,345
JBrowse link
abetalipoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTTP microsomal triglyceride transfer protein ISO OMIM NCBI chr 8:120,820,660...120,871,468
Ensembl chr 8:120,819,142...120,879,388
JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO ClinVar Annotator: match by term: Acanthocytosis ClinVar PMID:1696010, PMID:2527366, PMID:8343110 NCBI chr12:18,957,813...18,975,266
Ensembl chr12:18,957,805...18,974,216
JBrowse link
Abetalipoproteinemia Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTTP microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy ClinVar PMID:1439810, PMID:2903181, PMID:7782284, PMID:8071315, PMID:8361539, PMID:8533758, PMID:8939939, PMID:10446076, PMID:10679949, PMID:10946006, PMID:12630961, PMID:16721486, PMID:17275380, PMID:18027103, PMID:18611256, PMID:19066957, PMID:20592474, PMID:22236406, PMID:23475612, PMID:24842304, PMID:25108285, PMID:27170061, PMID:27271787, PMID:27487388, PMID:27578136, PMID:28492532, PMID:30522860 NCBI chr 8:120,820,660...120,871,468
Ensembl chr 8:120,819,142...120,879,388
JBrowse link
apolipoprotein C-III deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOC3 apolipoprotein C3 ISO OMIM NCBI chr 9:44,211,171...44,213,538 JBrowse link
autosomal recessive hypercholesterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 ISO OMIM NCBI chr 6:83,030,629...83,054,387
Ensembl chr 6:83,030,701...83,054,381
JBrowse link
Broad-Betalipoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E ISO ClinVar Annotator: match by term: Broad beta disease ClinVar PMID:2992507, PMID:3243553, PMID:6300187, PMID:9649566, PMID:16103896, PMID:16143024, PMID:17289397, PMID:19667110, PMID:20031551, PMID:20031582, PMID:22992668, PMID:25741868 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
chylomicron retention disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SAR1B secretion associated Ras related GTPase 1B ISO OMIM NCBI chr 2:136,848,843...136,874,248
Ensembl chr 2:136,843,965...136,874,222
JBrowse link
familial apolipoprotein A5 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA5 apolipoprotein A5 ISO OMIM NCBI chr 9:44,177,834...44,180,880 JBrowse link
familial apolipoprotein C-II deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOC2 apolipoprotein C2 ISO OMIM NCBI chr 6:51,404,219...51,406,302 JBrowse link
familial combined hyperlipidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADD1 adducin 1 ISO DNA:polymorphism: :p.Gly460Trp (human) RGD PMID:11775124 RGD:1559299 NCBI chr 8:1,627,146...1,710,653
Ensembl chr 8:1,627,177...1,710,661
JBrowse link
G ALPL alkaline phosphatase, biomineralization associated ISO RGD PMID:16336518 RGD:1601173 NCBI chr 6:79,589,695...79,649,646
Ensembl chr 6:79,588,659...79,649,648
JBrowse link
G APOA2 apolipoprotein A2 ISO protein:increased expression:plasma: RGD PMID:12738753 RGD:1300287 NCBI chr 4:89,237,514...89,239,126
Ensembl chr 4:89,237,511...89,240,320
JBrowse link
G APOB apolipoprotein B ISO protein:increased expression:plasma
ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb
RGD
ClinVar
PMID:221546, PMID:1360085, PMID:1431583, PMID:1454832, PMID:1466657, PMID:1493642, PMID:1600334, PMID:1793440, PMID:1977310, PMID:2280177, PMID:2375782, PMID:2563166, PMID:3399894, PMID:3473077, PMID:3477815, PMID:3771801, PMID:7627691, PMID:7670940, PMID:7883971, PMID:8141833, PMID:8254047, PMID:8318509, PMID:8318993, PMID:8371062, PMID:8468533, PMID:8478017, PMID:8723684, PMID:8831935, PMID:8889592, PMID:8931699, PMID:8960785, PMID:9081691, PMID:9104431, PMID:9105560, PMID:9191540, PMID:9254062, PMID:9259199, PMID:9339363, PMID:9486979, PMID:9490296, PMID:9568749, PMID:9603795, PMID:9654205, PMID:9702952, PMID:9925662, PMID:10208479, PMID:10388479, PMID:10529757, PMID:10735632, PMID:10952765, PMID:11031227, PMID:11115503, PMID:11137107, PMID:11238294, PMID:11494965, PMID:11781700, PMID:11810272, PMID:11833852, PMID:11941481, PMID:12655413, PMID:14732481, PMID:15135245, PMID:15797858, PMID:15805152, PMID:16250003, PMID:16797745, PMID:17046772, PMID:17087781, PMID:17142622, PMID:17160438, PMID:17539906, PMID:17570373, PMID:17588943, PMID:17595251, PMID:17765246, PMID:17964958, PMID:17968143, PMID:18022922, PMID:18028451, PMID:18096825, PMID:18160469, PMID:18222178, PMID:18258526, PMID:18279815, PMID:18325181, PMID:18355452, PMID:18492086, PMID:18700895, PMID:18710658, PMID:19602640, PMID:20032471, PMID:20145306, PMID:20167924, PMID:20236128, PMID:20506408, PMID:20538126, PMID:20592474, PMID:20657596, PMID:20736250, PMID:20809525, PMID:20828696, PMID:21059979, PMID:21310417, PMID:21376320, PMID:21382890, PMID:21408211, PMID:21520333, PMID:21657943, PMID:21722902, PMID:21862702, PMID:21868016, PMID:21919778, PMID:22095935, PMID:22244043, PMID:22256951, PMID:22294733, PMID:22353362, PMID:22408029, PMID:22534770, PMID:22698793, PMID:22855658, PMID:22883975, PMID:22923420, PMID:23054246, PMID:23064986, PMID:23130880, PMID:23375686, PMID:23593297, PMID:23680767, PMID:23685560, PMID:23775634, PMID:23833242, PMID:23936638, PMID:24033266, PMID:24106285, PMID:24234650, PMID:24404629, PMID:24498611, PMID:24503134, PMID:24507774, PMID:24507775, PMID:24607922, PMID:24784157, PMID:24956927, PMID:24987033, PMID:25461735, PMID:25741868, PMID:26020417, PMID:26036859, PMID:26064709, PMID:26332594, PMID:26415676, PMID:26467025, PMID:26636822, PMID:26643808, PMID:26666465, PMID:26802169, PMID:27153395, PMID:27206935, PMID:27497240, PMID:27578127, PMID:27654142, PMID:27765764, PMID:27783906, PMID:27884173, PMID:27919364, PMID:27932355, PMID:28008009, PMID:28428224, PMID:28431867, PMID:28475941, PMID:28492532, PMID:28895539, PMID:28958330, PMID:28965616, PMID:29036232, PMID:29261184, PMID:29572815, PMID:29598884, PMID:30056620, PMID:30122538, PMID:30270084, PMID:30311386, PMID:30526649, PMID:30842500, PMID:31345425 RGD:1601200 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
G APOC3 apolipoprotein C3 no_association ISO DNA:haplotype, snp:3' utr:g.3175G>C (human) RGD PMID:9062353, PMID:9812922, PMID:15863838 RGD:1601225, RGD:5685674, RGD:5685676 NCBI chr 9:44,211,171...44,213,538 JBrowse link
G APOE apolipoprotein E ISO DNA:missense mutations, haplotype:cds:p.C112R, p.R158C (human) RGD PMID:12915220, PMID:17127808 RGD:1578481, RGD:1601231 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
G FASLG Fas ligand (TNF superfamily, member 6) ISO CTD Direct Evidence: marker/mechanism CTD PMID:15063428 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,475
JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha ISO DNA:haplotype: :rs6031558,rs745975, rs3212198(human) RGD PMID:18340007 RGD:12904697 NCBI chr17:46,783,772...46,847,505
Ensembl chr17:46,783,777...46,847,503
JBrowse link
G LIPC lipase C, hepatic type ISO RGD PMID:16338252 RGD:1580512 NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,679...113,604,306
JBrowse link
G LPL lipoprotein lipase ISO OMIM NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814
JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:plasma: RGD PMID:18417194 RGD:13207412 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
JBrowse link
G THBD thrombomodulin ISO RGD PMID:15262191 RGD:1601645 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,221,819...30,230,177
JBrowse link
G USF1 upstream transcription factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to
CTD
ClinVar
PMID:14991056, PMID:16076849 NCBI chr 4:89,395,133...89,401,048
Ensembl chr 4:89,395,195...89,401,047
JBrowse link
G VWF von Willebrand factor ISO protein:increased expression:plasma: RGD PMID:18417194 RGD:13207412 NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,519,186...65,002,098
JBrowse link
familial GPIHBP1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ISO OMIM NCBI chr 4:1,253,401...1,256,921
Ensembl chr 4:1,254,565...1,256,577
JBrowse link
Familial HDL Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO OMIM NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492
JBrowse link
G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency
ClinVar Annotator: match by term: Familial HDL deficiency
ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary
ClinVar PMID:1901417, PMID:17303779, PMID:20884842, PMID:21820994, PMID:23209431, PMID:23770607, PMID:24081495, PMID:25034063, PMID:26530418, PMID:27135400, PMID:27785680, PMID:28492532, PMID:29353225 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,393...44,218,978
JBrowse link
familial hypercholesterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar PMID:19743957, PMID:20800056, PMID:24497850, PMID:25215231, PMID:25741868 NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492
JBrowse link
G APOA2 apolipoprotein A2 ISO OMIM NCBI chr 4:89,237,514...89,239,126
Ensembl chr 4:89,237,511...89,240,320
JBrowse link
G APOB apolipoprotein B ISO DNA:deletion:promoter, exon:
ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: Familial hypercholesterolemias
RGD
ClinVar
PMID:221546, PMID:1360085, PMID:1424233, PMID:1454832, PMID:1466657, PMID:1493642, PMID:1600334, PMID:1793440, PMID:1933004, PMID:1977310, PMID:2280177, PMID:2375782, PMID:2563166, PMID:2574033, PMID:2725600, PMID:2843815, PMID:2903181, PMID:3477815, PMID:3627182, PMID:3771801, PMID:7627691, PMID:7670940, PMID:7883971, PMID:8141833, PMID:8254047, PMID:8318509, PMID:8318993, PMID:8371062, PMID:8468533, PMID:8478017, PMID:8723684, PMID:8831935, PMID:8889592, PMID:8931699, PMID:8960785, PMID:9081691, PMID:9104431, PMID:9105560, PMID:9191540, PMID:9254062, PMID:9259199, PMID:9339363, PMID:9486979, PMID:9490296, PMID:9568749, PMID:9603795, PMID:9654205, PMID:9702952, PMID:9925662, PMID:10208479, PMID:10388479, PMID:10529757, PMID:10735632, PMID:10952765, PMID:11031227, PMID:11115503, PMID:11137107, PMID:11238294, PMID:11494965, PMID:11781700, PMID:11810272, PMID:11833852, PMID:11941481, PMID:12031600, PMID:14732481, PMID:15135245, PMID:15308601, PMID:15797858, PMID:15805152, PMID:16250003, PMID:17046772, PMID:17087781, PMID:17142622, PMID:17160438, PMID:17539906, PMID:17570373, PMID:17588943, PMID:17595251, PMID:17765246, PMID:17964958, PMID:17968143, PMID:18022922, PMID:18028451, PMID:18096825, PMID:18160469, PMID:18222178, PMID:18258526, PMID:18279815, PMID:18325181, PMID:18355452, PMID:18492086, PMID:18700895, PMID:18710658, PMID:19602640, PMID:20032471, PMID:20145306, PMID:20167924, PMID:20236128, PMID:20506408, PMID:20538126, PMID:20592474, PMID:20657596, PMID:20736250, PMID:20809525, PMID:20828696, PMID:21059979, PMID:21310417, PMID:21376320, PMID:21382890, PMID:21408211, PMID:21520333, PMID:21600525, PMID:21600530, PMID:21657943, PMID:21722902, PMID:21862702, PMID:21868016, PMID:21919778, PMID:22095935, PMID:22244043, PMID:22256951, PMID:22294733, PMID:22353362, PMID:22408029, PMID:22534770, PMID:22698793, PMID:22883975, PMID:22923420, PMID:23054246, PMID:23064986, PMID:23130880, PMID:23375686, PMID:23593297, PMID:23680767, PMID:23685560, PMID:23775634, PMID:23833242, PMID:23936638, PMID:23956253, PMID:24033266, PMID:24106285, PMID:24234650, PMID:24404629, PMID:24498611, PMID:24503134, PMID:24507774, PMID:24507775, PMID:24585268, PMID:24607922, PMID:24784157, PMID:24956927, PMID:24987033, PMID:25461735, PMID:25741868, PMID:25741869, PMID:26020417, PMID:26036859, PMID:26064709, PMID:26332594, PMID:26415676, PMID:26467025, PMID:26636822, PMID:26643808, PMID:26666465, PMID:26802169, PMID:27153395, PMID:27206935, PMID:27497240, PMID:27578127, PMID:27654142, PMID:27765764, PMID:27783906, PMID:27884173, PMID:27919364, PMID:27932355, PMID:28008009, PMID:28428224, PMID:28431867, PMID:28475941, PMID:28492532, PMID:28895539, PMID:28958330, PMID:28965616, PMID:29036232, PMID:29261184, PMID:29572815, PMID:29598884, PMID:30056620, PMID:30076208, PMID:30122538, PMID:30270084, PMID:30311386, PMID:30526649, PMID:30842500, PMID:31345425 RGD:11527221 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
G DOCK6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:14756670, PMID:17094996, PMID:19538517, PMID:20045108, PMID:22698793, PMID:25741868 NCBI chr 2:69,925,853...69,972,326
Ensembl chr 2:69,925,852...69,972,316
JBrowse link
G EPHX2 epoxide hydrolase 2 ISO OMIM NCBI chr14:11,217,125...11,293,018
Ensembl chr14:11,216,977...11,293,412
JBrowse link
G GHR growth hormone receptor ISO OMIM NCBI chr16:27,126,300...27,422,618
Ensembl chr16:27,126,286...27,422,268
JBrowse link
G GK glycerol kinase ISO RGD PMID:10642898 RGD:13702898 NCBI chr  X:26,470,422...26,558,892 JBrowse link
G LDLR low density lipoprotein receptor ISO
IEA
Hypercholesterolaemia OMIM
OMIA
PMID:5814155, PMID:8879433, PMID:11193346, PMID:15206480 NCBI chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,823
JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:25741868, PMID:28492532 NCBI chr 6:83,030,629...83,054,387
Ensembl chr 6:83,030,701...83,054,381
JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar Annotator: match by term: Familial hypercholesterolemia 1
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: Familial hypercholesterolemias
ClinVar PMID:10357843, PMID:10764678, PMID:11668641, PMID:12175777, PMID:12730697, PMID:14727156, PMID:14727179, PMID:15099351, PMID:15166014, PMID:15358785, PMID:15654334, PMID:15772090, PMID:15893176, PMID:16183066, PMID:16211558, PMID:16224054, PMID:16424354, PMID:16465619, PMID:16554528, PMID:16571601, PMID:16777760, PMID:16909389, PMID:16912035, PMID:17094996, PMID:17140581, PMID:17170371, PMID:17316651, PMID:17461796, PMID:17502126, PMID:17765244, PMID:17804797, PMID:17971861, PMID:18028451, PMID:18197702, PMID:18250299, PMID:18262190, PMID:18266662, PMID:18300938, PMID:18354102, PMID:18436227, PMID:18559913, PMID:18631360, PMID:18710658, PMID:18718593, PMID:18799458, PMID:19001363, PMID:19022446, PMID:19081568, PMID:19191301, PMID:19351729, PMID:19797716, PMID:19917273, PMID:20006333, PMID:20031607, PMID:20172854, PMID:20538126, PMID:20579540, PMID:20959675, PMID:21146822, PMID:21376320, PMID:21943799, PMID:22095935, PMID:22344438, PMID:22417841, PMID:22683120, PMID:22875854, PMID:22923420, PMID:22995991, PMID:23064986, PMID:23105118, PMID:23375686, PMID:23386946, PMID:23535506, PMID:23663650, PMID:23680767, PMID:23743349, PMID:23935525, PMID:23997648, PMID:24033266, PMID:24115837, PMID:24278757, PMID:24507774, PMID:24507775, PMID:24607922, PMID:24785115, PMID:24793346, PMID:24808179, PMID:24859021, PMID:25014035, PMID:25046268, PMID:25278291, PMID:25412415, PMID:25525159, PMID:25600226, PMID:25741868, PMID:25744035, PMID:25904937, PMID:25962062, PMID:26020417, PMID:26036859, PMID:26049403, PMID:26195630, PMID:26332594, PMID:26374825, PMID:26467025, PMID:26541928, PMID:26546829, PMID:26632531, PMID:26636822, PMID:26802169, PMID:26937405, PMID:27050191, PMID:27135400, PMID:27206942, PMID:27218270, PMID:27280970, PMID:27516387, PMID:27765764, PMID:27896130, PMID:27919364, PMID:27998977, PMID:28008010, PMID:28179607, PMID:28302345, PMID:28323660, PMID:28349888, PMID:28360401, PMID:28438747, PMID:28492532, PMID:28587771, PMID:28768753, PMID:28777095, PMID:28965616, PMID:29036232, PMID:29083407, PMID:29127338, PMID:29259136, PMID:29261184, PMID:29399563, PMID:29438441, PMID:29459468, PMID:29593013, PMID:29982529, PMID:29997226, PMID:30779729, PMID:31106297, PMID:31386798 NCBI chr 6:157,388,370...157,409,620
Ensembl chr 6:157,388,372...157,409,604
JBrowse link
G PON2 paraoxonase 2 ISO DNA:missense mutation:cds:p.S311C (human) RGD PMID:16776623 RGD:1642625 NCBI chr 9:75,027,270...75,051,441
Ensembl chr 9:75,027,097...75,051,422
JBrowse link
G PPP1R17 protein phosphatase 1 regulatory subunit 17 ISO OMIM NCBI chr18:41,428,527...41,474,647
Ensembl chr18:41,410,768...41,768,804
JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:serum: RGD PMID:19004443 RGD:13207334 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:1998642, PMID:25741868 NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,298
JBrowse link
G STAP1 signal transducing adaptor family member 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:26036859 NCBI chr 8:65,318,861...65,372,838
Ensembl chr 8:65,332,522...65,392,965
JBrowse link
Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOB apolipoprotein B ISO ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B
ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE
ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE
ClinVar PMID:221546, PMID:1360085, PMID:1431583, PMID:1454832, PMID:1466657, PMID:1493642, PMID:1600334, PMID:1793440, PMID:1977310, PMID:2280177, PMID:2375782, PMID:2563166, PMID:3399894, PMID:3473077, PMID:3477815, PMID:3771801, PMID:7627691, PMID:7670940, PMID:7883971, PMID:8141833, PMID:8254047, PMID:8318509, PMID:8318993, PMID:8371062, PMID:8468533, PMID:8478017, PMID:8723684, PMID:8831935, PMID:8889592, PMID:8931699, PMID:8960785, PMID:9081691, PMID:9104431, PMID:9105560, PMID:9191540, PMID:9254062, PMID:9259199, PMID:9339363, PMID:9486979, PMID:9490296, PMID:9568749, PMID:9603795, PMID:9654205, PMID:9702952, PMID:9925662, PMID:10208479, PMID:10388479, PMID:10529757, PMID:10735632, PMID:10952765, PMID:11031227, PMID:11115503, PMID:11137107, PMID:11238294, PMID:11494965, PMID:11781700, PMID:11810272, PMID:11833852, PMID:11941481, PMID:12655413, PMID:14732481, PMID:15135245, PMID:15797858, PMID:15805152, PMID:16250003, PMID:17046772, PMID:17087781, PMID:17142622, PMID:17160438, PMID:17539906, PMID:17570373, PMID:17588943, PMID:17595251, PMID:17765246, PMID:17964958, PMID:17968143, PMID:18022922, PMID:18028451, PMID:18096825, PMID:18160469, PMID:18222178, PMID:18258526, PMID:18279815, PMID:18325181, PMID:18355452, PMID:18492086, PMID:18700895, PMID:18710658, PMID:19602640, PMID:20032471, PMID:20145306, PMID:20167924, PMID:20236128, PMID:20506408, PMID:20538126, PMID:20592474, PMID:20657596, PMID:20736250, PMID:20809525, PMID:20828696, PMID:21059979, PMID:21310417, PMID:21376320, PMID:21382890, PMID:21408211, PMID:21520333, PMID:21657943, PMID:21722902, PMID:21862702, PMID:21868016, PMID:21919778, PMID:22095935, PMID:22244043, PMID:22256951, PMID:22294733, PMID:22353362, PMID:22408029, PMID:22534770, PMID:22698793, PMID:22855658, PMID:22883975, PMID:22923420, PMID:23054246, PMID:23064986, PMID:23130880, PMID:23375686, PMID:23593297, PMID:23680767, PMID:23685560, PMID:23775634, PMID:23833242, PMID:23936638, PMID:24033266, PMID:24106285, PMID:24234650, PMID:24404629, PMID:24498611, PMID:24503134, PMID:24507774, PMID:24507775, PMID:24607922, PMID:24784157, PMID:24956927, PMID:24987033, PMID:25461735, PMID:25741868, PMID:26020417, PMID:26036859, PMID:26064709, PMID:26332594, PMID:26415676, PMID:26467025, PMID:26636822, PMID:26643808, PMID:26666465, PMID:26802169, PMID:27153395, PMID:27206935, PMID:27497240, PMID:27578127, PMID:27654142, PMID:27765764, PMID:27783906, PMID:27884173, PMID:27919364, PMID:27932355, PMID:28008009, PMID:28428224, PMID:28431867, PMID:28475941, PMID:28492532, PMID:28895539, PMID:28958330, PMID:28965616, PMID:29036232, PMID:29261184, PMID:29572815, PMID:29598884, PMID:30056620, PMID:30122538, PMID:30270084, PMID:30311386, PMID:30526649, PMID:30842500, PMID:31345425 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
Familial Hyperchylomicronemia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LPL lipoprotein lipase ISO ClinVar Annotator: match by term: Hyperlipoproteinemia type 1 ClinVar PMID:1562620, PMID:1576758, PMID:1598907, PMID:1731801, PMID:1737848, PMID:1907278, PMID:10735636, PMID:16174715, PMID:23246289, PMID:25741868, PMID:30311386 NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814
JBrowse link
familial hyperlipidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 treatment ISO RGD PMID:17026988, PMID:23185768 RGD:1598533, RGD:21408557 NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492
JBrowse link
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 susceptibility ISO DNA:SNP::2677G>T/A(rs2032582)(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:24502637, PMID:26922556 RGD:11574565 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ABCG5 ATP binding cassette subfamily G member 5 susceptibility ISO sitosterolemia;DNA:missense mutation: :p.G583C RGD PMID:16026620 RGD:1598659 NCBI chr 3:96,616,304...96,656,893
Ensembl chr 3:96,616,246...96,656,893
JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 susceptibility ISO sitosterolemia;DNA:missense mutation, nonsense mutation: :p.G574A, 1083G>A RGD PMID:12671028 RGD:1601097 NCBI chr 3:96,596,975...96,616,224
Ensembl chr 3:96,594,778...96,616,229
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing treatment ISO RGD PMID:24308182 RGD:8695929 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,684...124,646,648
JBrowse link
G ADRB2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16027735 NCBI chr 2:150,032,649...150,035,591
Ensembl chr 2:150,032,782...150,035,591
JBrowse link
G ADRB3 adrenoceptor beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16027735 NCBI chr15:48,468,803...48,478,370 JBrowse link
G ALB albumin ISO DNA:mutation RGD PMID:6468510 RGD:1601160 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,718,304
JBrowse link
G ANGPTL4 angiopoietin like 4 ISO RGD PMID:12401877, PMID:15837923 RGD:1578349, RGD:1625354 NCBI chr 2:70,905,767...70,912,892
Ensembl chr 2:70,904,531...70,912,974
JBrowse link
G APC APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:17546600 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,912
JBrowse link
G APOB apolipoprotein B treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:7627691, PMID:15716585, PMID:17658632 RGD:14401726, RGD:1578419 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
G APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO RGD PMID:11116209 RGD:1626277 NCBI chr 5:62,811,819...62,820,532
Ensembl chr 5:62,810,879...62,820,173
JBrowse link
G APOC2 apolipoprotein C2 susceptibility ISO RGD PMID:1782747 RGD:1599175 NCBI chr 6:51,404,219...51,406,302 JBrowse link
G APOC3 apolipoprotein C3 treatment ISO RGD PMID:23542898 RGD:10054091 NCBI chr 9:44,211,171...44,213,538 JBrowse link
G APOE apolipoprotein E treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11947894, PMID:12871831, PMID:20530721, PMID:20937366, PMID:22762542, PMID:29459263 RGD:13703129, RGD:6903856 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
G BCHE butyrylcholinesterase ISO protein:increased expression:serum RGD PMID:15219807 RGD:1601321 NCBI chr13:104,946,732...105,007,568 JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 treatment ISO RGD PMID:19525846 RGD:11528561 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:21485068 RGD:5490594 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
JBrowse link
G CRP C-reactive protein, pentraxin-related ISO protein:increased expression:serum: RGD PMID:24308182 RGD:8695929 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,722,352...90,805,236
JBrowse link
G CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 ISO RGD PMID:23002367 RGD:14700877 NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,818
JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:plasma RGD PMID:8914465 RGD:11060253 NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,992...122,837,672
JBrowse link
G F7 coagulation factor VII ISO protein:increased expression:plasma (rat) RGD PMID:11776312 RGD:2312300 NCBI chr11:78,512,389...78,518,668
Ensembl chr11:78,512,158...78,518,671
JBrowse link
G GCG glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:69995 NCBI chr15:68,800,557...68,810,268
Ensembl chr15:68,800,561...68,810,244
JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO mRNA:increased expression:gastrocnemius RGD PMID:16555472 RGD:1624365 NCBI chr 3:73,028,750...73,086,191
Ensembl chr 3:72,983,188...73,085,319
JBrowse link
G GNB3 G protein subunit beta 3 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :825C>T (human) RGD PMID:17161225 RGD:2313205 NCBI chr 5:63,863,656...63,871,352
Ensembl chr 5:63,863,661...63,870,433
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO mRNA,protein:increased expression:islet cells:diabetic but not prediabetic Zucker Diabetic Fatty (fa/fa) rats RGD PMID:14697232 RGD:1625074 NCBI chr 9:133,231,451...133,278,396
Ensembl chr 9:133,231,451...133,278,396
JBrowse link
G IRS1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10591678 NCBI chr15:128,245,846...128,307,321
Ensembl chr15:128,245,846...128,308,335
JBrowse link
G KL klotho ISO RGD PMID:10892340 RGD:1581732 NCBI chr11:9,427,236...9,479,251
Ensembl chr11:9,427,198...9,478,346
JBrowse link
G LCAT lecithin-cholesterol acyltransferase ISO RGD PMID:12935429 RGD:1581787 NCBI chr 6:28,550,356...28,553,561
Ensembl chr 6:28,550,357...28,553,567
JBrowse link
G LDLR low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11947894, PMID:25619500 NCBI chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,823
JBrowse link
G LEP leptin ISO mRNA:decreased expression:liver, adipose tissue (rat) RGD PMID:17671736 RGD:10053616 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,447
JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25222487 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,798,979...146,896,108
JBrowse link
G LIPC lipase C, hepatic type ISO protein:reduced expression:plasma (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:1883393, PMID:12935429 RGD:1581787 NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,679...113,604,306
JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20199424 NCBI chr 1:267,207,273...267,290,862
Ensembl chr 1:267,207,561...267,291,145
JBrowse link
G LPL lipoprotein lipase treatment ISO ClinVar Annotator: match by term: Hyperlipidemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1598907, PMID:9920508, PMID:17658632, PMID:29931882, PMID:30311386 RGD:13794383, RGD:1556571 NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814
JBrowse link
G MIR125A microRNA mir-125a ISO RGD PMID:31988048 RGD:21403676 NCBI chr 6:58,331,566...58,331,645
Ensembl chr 6:58,331,566...58,331,645
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO associated with Diabetes Mellitus, Type 2 RGD PMID:16490430 RGD:1642030 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G MTTP microsomal triglyceride transfer protein ISO RGD PMID:12191589 RGD:1625489 NCBI chr 8:120,820,660...120,871,468
Ensembl chr 8:120,819,142...120,879,388
JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Hyperlipidemia ClinVar PMID:18533079, PMID:20800588, PMID:23140321, PMID:24033266, PMID:24093860, PMID:25740977, PMID:25741868, PMID:27600940, PMID:30311386 NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,539...15,270,104
JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21285402 NCBI chr 7:58,261,761...58,269,001
Ensembl chr 7:58,261,761...58,283,092
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism
protein:increased phosphorylation:aorta
CTD
RGD
PMID:11457755, PMID:17895290 RGD:2292129 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G PLAU plasminogen activator, urokinase ISO associated with Venous Thrombosis; protein:increased expression:wall of vein, thrombus (mouse) RGD PMID:22119245 RGD:6903200 NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: therapeutic CTD PMID:21640707 NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,708...3,366,361
JBrowse link
G PPARGC1B PPARG coactivator 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17932310 NCBI chr 2:150,823,338...150,924,871
Ensembl chr 2:150,823,373...150,919,378
JBrowse link
G RGN regucalcin ISO RGD PMID:15375596 RGD:9590273 NCBI chr  X:41,725,660...41,749,736
Ensembl chr  X:41,726,526...41,749,726
JBrowse link
G SDC1 syndecan 1 ISO RGD PMID:17403197 RGD:1643125 NCBI chr 3:117,987,585...118,011,886
Ensembl chr 3:117,987,557...118,011,885
JBrowse link
G SERPINC1 serpin family C member 1 ISO protein:increased expression:plasma RGD PMID:17283885 RGD:11035268 NCBI chr 9:116,181,988...116,193,100
Ensembl chr 9:116,181,980...116,193,201
JBrowse link
G SERPINF2 serpin family F member 2 ISO RGD PMID:2313941 RGD:1625536 NCBI chr12:47,934,551...47,942,283
Ensembl chr12:47,933,864...47,942,287
JBrowse link
G SHC1 SHC adaptor protein 1 ISO RGD PMID:15044008 RGD:1643177 NCBI chr 4:94,818,226...94,831,766
Ensembl chr 4:94,810,875...94,831,765
JBrowse link
G SLC27A1 solute carrier family 27 member 1 ISO protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle RGD PMID:15281014 RGD:1642794 NCBI chr 2:60,203,374...60,235,689
Ensembl chr 2:60,203,374...60,235,652
JBrowse link
G SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 ISO mRNA:decreased expression:thoracic aorta RGD PMID:24615205 RGD:9586357 NCBI chr 5:15,992,348...16,005,778
Ensembl chr 5:15,992,459...16,005,778
JBrowse link
G TFPI tissue factor pathway inhibitor ISO protein:increased expression:plasma: RGD PMID:8914465 RGD:11060253 NCBI chr15:92,345,083...92,409,962
Ensembl chr15:92,345,075...92,409,905
JBrowse link
G TGFB1 transforming growth factor beta 1 treatment ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney cortex
associated with Chronic Kidney Failure;mRNA:increased expression:kidney
RGD PMID:16834981, PMID:19001732 RGD:1601559, RGD:2306735 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO RGD PMID:18159007 RGD:2313110 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,908...117,511,226
JBrowse link
G VLDLR very low density lipoprotein receptor ISO RGD PMID:10985956 RGD:1625570 NCBI chr 1:219,178,501...219,210,332
Ensembl chr 1:219,173,504...219,210,343
JBrowse link
familial hypobetalipoproteinemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOB apolipoprotein B ISO OMIM NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
familial hypobetalipoproteinemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPTL3 angiopoietin like 3 ISO OMIM NCBI chr 6:149,836,417...149,845,854
Ensembl chr 6:149,832,541...149,845,831
JBrowse link
G DOCK7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by term: Hypobetalipoproteinemia, familial, 2 ClinVar PMID:19075393, PMID:20942659, PMID:22062970, PMID:22247256 NCBI chr 6:149,745,375...149,971,853
Ensembl chr 6:149,747,529...149,972,158
JBrowse link
Familial Hypobetalipoproteinemia, Apolipoprotein B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOB apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:2567736, PMID:2843815, PMID:3473077 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
G MTTP microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Apolipoprotein B deficiency ClinVar PMID:1439810, PMID:2903181, PMID:7782284, PMID:8071315, PMID:8361539, PMID:8533758, PMID:8939939, PMID:10446076, PMID:10679949, PMID:10946006, PMID:12630961, PMID:16721486, PMID:17275380, PMID:18027103, PMID:18611256, PMID:19066957, PMID:20592474, PMID:22236406, PMID:23475612, PMID:24842304, PMID:25108285, PMID:27170061, PMID:27271787, PMID:27487388, PMID:27578136, PMID:28492532, PMID:30522860 NCBI chr 8:120,820,660...120,871,468
Ensembl chr 8:120,819,142...120,879,388
JBrowse link
familial lipase maturation factor 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMF1 lipase maturation factor 1 ISO OMIM NCBI chr 3:40,841,242...40,929,163
Ensembl chr 3:40,830,216...40,934,254
JBrowse link
familial lipoprotein lipase deficiency 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: Hyperlipoproteinemia, type I ClinVar PMID:25741868 NCBI chr 9:44,177,834...44,180,880 JBrowse link
G APOC2 apolipoprotein C2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE IB
ClinVar Annotator: match by term: C-II ANAPOLIPOPROTEINEMIA
CTD
ClinVar
PMID:213719, PMID:1349286, PMID:1628605, PMID:1782747, PMID:1971748, PMID:2477392, PMID:2592354, PMID:3192518, PMID:3225819, PMID:3263393, PMID:3467353, PMID:3680515, PMID:3944267, PMID:3944271, PMID:7815420, PMID:7923858, PMID:8323539, PMID:8490626, PMID:12783430, PMID:25741868, PMID:28492532 NCBI chr 6:51,404,219...51,406,302 JBrowse link
G LPL lipoprotein lipase ISO OMIM NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814
JBrowse link
glycogen storage disease IXa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 ISO OMIM NCBI chr  X:15,279,398...15,365,731
Ensembl chr  X:15,283,102...15,365,565
JBrowse link
glycogen storage disease IXb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHKB phosphorylase kinase regulatory subunit beta ISO OMIM NCBI chr 6:36,994,424...37,193,631
Ensembl chr 6:36,991,241...37,193,587
JBrowse link
glycogen storage disease IXc term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHKG2 phosphorylase kinase catalytic subunit gamma 2 ISO OMIM NCBI chr 3:17,640,790...17,656,765
Ensembl chr 3:17,639,996...17,656,618
JBrowse link
glycogen storage disease IXd term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHKA1 phosphorylase kinase regulatory subunit alpha 1 ISO OMIM NCBI chr  X:58,456,097...58,583,216
Ensembl chr  X:58,455,938...58,583,216
JBrowse link
Hyperapobetalipoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LPL lipoprotein lipase ISO ClinVar Annotator: match by term: Hyperapobetalipoproteinemia ClinVar PMID:1351946, PMID:1400331, PMID:1479292, PMID:1505655, PMID:1511985, PMID:1674945, PMID:1702428, PMID:1752947, PMID:1872917, PMID:1969408, PMID:1975597, PMID:2038366, PMID:2394828, PMID:2914262, PMID:6645961, PMID:7647785, PMID:7906986, PMID:8099055, PMID:8541837, PMID:9401010, PMID:11334614, PMID:11893776, PMID:15877202, PMID:16972177, PMID:17717288, PMID:18068174, PMID:18350203, PMID:21159338, PMID:22095987, PMID:22239554, PMID:23484243, PMID:25741868, PMID:25966443, PMID:27055971, PMID:27573733, PMID:28267856, PMID:28438574, PMID:28492532, PMID:29153744, PMID:29288010 NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha susceptibility ISO ClinVar Annotator: match by term: Hyperapobetalipoproteinemia, susceptibility to OMIM
ClinVar
PMID:10828087, PMID:12006394, PMID:15309680 NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,708...3,366,361
JBrowse link
Hypercholesterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver, jejunum (rat)
CTD
RGD
PMID:22022523, PMID:24619822 RGD:19165129 NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492
JBrowse link
G ABCB11 ATP binding cassette subfamily B member 11 ISO RGD PMID:21726512 RGD:14688050 NCBI chr15:75,402,296...75,487,092
Ensembl chr15:75,400,766...75,486,403
JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 ISO DNA:polymorphism: :p.M429V RGD PMID:15816807 RGD:1601094 NCBI chr 3:96,596,975...96,616,224
Ensembl chr 3:96,594,778...96,616,229
JBrowse link
G ACAT2 acetyl-CoA acetyltransferase 2 ISO RGD PMID:11100118 RGD:1556516 NCBI chr 1:7,600,616...7,612,861
Ensembl chr 1:7,598,735...7,612,811
JBrowse link
G ALPL alkaline phosphatase, biomineralization associated ISO RGD PMID:17403193 RGD:1601171 NCBI chr 6:79,589,695...79,649,646
Ensembl chr 6:79,588,659...79,649,648
JBrowse link
G APOA1 apolipoprotein A1 ISO DNA:polymorphisms: :-75G>A, 83C>T (human) RGD PMID:16309370 RGD:1601184 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,393...44,218,978
JBrowse link
G APOB apolipoprotein B ISO ClinVar Annotator: match by term: Hypercholesterolemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1600334, PMID:16581047, PMID:24033266, PMID:25741868, PMID:26415676, PMID:26467025, PMID:27578127, PMID:28492532 RGD:1599167 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
G APOC2 apolipoprotein C2 susceptibility ISO associated with Hypertriglyceridemia;DNA:missense mutation: :p.K38Q (human) RGD PMID:8490626 RGD:1601207 NCBI chr 6:51,404,219...51,406,302 JBrowse link
G APOC3 apolipoprotein C3 ISO RGD PMID:2879788 RGD:1578447 NCBI chr 9:44,211,171...44,213,538 JBrowse link
G APOE apolipoprotein E susceptibility
severity
ISO DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human)
ClinVar Annotator: match by term: Hypercholesterolemia
associated with Kidney Failure, Chronic; DNA:missense mutations, haplotype:cds:p.C130R, p.C176R (human)
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1411543, PMID:2987927, PMID:2992507, PMID:3243553, PMID:3922972, PMID:6300187, PMID:7263700, PMID:8346443, PMID:8618665, PMID:8644717, PMID:9343467, PMID:9649566, PMID:9932938, PMID:10213549, PMID:10799751, PMID:11397713, PMID:11835377, PMID:11940689, PMID:11940706, PMID:14741101, PMID:15048896, PMID:15184602, PMID:15326261, PMID:15557508, PMID:15668424, PMID:16103896, PMID:16143024, PMID:17217375, PMID:17289397, PMID:19605830, PMID:19667110, PMID:20031551, PMID:20031582, PMID:21043830, PMID:21357213, PMID:22022523, PMID:22228805, PMID:22381401, PMID:22992668, PMID:23060451, PMID:23296339, PMID:23571587, PMID:24033266, PMID:25741868, PMID:27260402, PMID:28808185, PMID:30311386 RGD:13703132, RGD:1601229, RGD:6903838, RGD:734968 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
G ATM ATM serine/threonine kinase susceptibility ISO RGD PMID:15863839 RGD:1601249 NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,554
JBrowse link
G CASP3 caspase 3 ISO RGD PMID:24484682 RGD:13782354 NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,749...45,763,773
JBrowse link
G CASP9 caspase 9 ISO RGD PMID:24484682 RGD:13782354 NCBI chr 6:74,707,597...74,730,033
Ensembl chr 6:74,706,515...74,730,092
JBrowse link
G CD36 CD36 molecule ISO RGD PMID:10946357 RGD:11040931 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
JBrowse link
G CD40 CD40 molecule treatment ISO protein:increased expression:serum RGD PMID:21574786 RGD:7248754 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CD40LG CD40 ligand treatment ISO associated with Diabetes Mellitus, Type 2
protein:increased expression:platelet (rat)
RGD PMID:18787388, PMID:21574786, PMID:26950185 RGD:11344960, RGD:7248428, RGD:7248754 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:30311386 NCBI chr 7:77,719,476...77,780,148
Ensembl chr 7:77,719,554...77,780,147
JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21852083 NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,556,912...93,615,815
JBrowse link
G CPB2 carboxypeptidase B2 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:16123492 RGD:2313641 NCBI chr11:21,234,447...21,298,250
Ensembl chr11:21,234,447...21,298,244
JBrowse link
G CSF1 colony stimulating factor 1 ISO RGD PMID:9158105 RGD:1641957 NCBI chr 4:110,178,466...110,198,232
Ensembl chr 4:110,178,478...110,197,901
JBrowse link
G CTF1 cardiotrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21803294 NCBI chr 3:17,539,927...17,545,250
Ensembl chr 3:17,540,499...17,545,240
JBrowse link
G CYP51 cytochrome P450, family 51, subfamily A, polypeptide 1 ISO mRNA:decreased expression:liver RGD PMID:16472823 RGD:13782194 NCBI chr 9:72,057,506...72,079,587
Ensembl chr 9:72,057,511...72,079,444
JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 ISO CTD Direct Evidence: therapeutic
mRNA:decreased expression:liver
CTD
RGD
PMID:8245718, PMID:16472823 RGD:13782194 NCBI chr 4:74,343,101...74,372,628
Ensembl chr 4:74,342,856...74,372,638
JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15486036 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G ENG endoglin treatment ISO protein:increased expression, aortic root, aortic arch, endothelium (mouse) RGD PMID:17901886 RGD:7257552 NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,306,120...268,343,827
JBrowse link
G FBXW4 F-box and WD repeat domain containing 4 ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:30311386 NCBI chr14:112,628,988...112,736,631
Ensembl chr14:112,638,204...112,735,857
JBrowse link
G FGF2 fibroblast growth factor 2 ISO associated with Carcinoma, Ductal, Breast RGD PMID:15491965 RGD:8655598 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,878...101,343,916
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:21966115 RGD:10449170 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,025,257...125,041,033
JBrowse link
G GSR glutathione-disulfide reductase treatment ISO RGD PMID:24120393, PMID:24770475 RGD:10401874, RGD:10401896 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,989
JBrowse link
G HMBS hydroxymethylbilane synthase ISO associated with Porphyria, Acute Intermittent (MeSH:D017118); protein:reduced activity:erythrocytes RGD PMID:2809566 RGD:2301684 NCBI chr 9:46,300,039...46,308,681
Ensembl chr 9:46,300,050...46,313,936
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver
mRNA:decreased expression:liver (rat)
CTD
RGD
PMID:1611649, PMID:8593127, PMID:17250646, PMID:24619822, PMID:25168180 RGD:13782271, RGD:19165129, RGD:5508480, RGD:5508696 NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,225...84,402,956
JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha resistance ISO Finnish and Mexican populations; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1B (2-1-1) RGD PMID:16804065 RGD:1601642 NCBI chr17:46,783,772...46,847,505
Ensembl chr17:46,783,777...46,847,503
JBrowse link
G HP haptoglobin ISO protein:increased expression:plasma RGD PMID:16944942 RGD:1626342 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:12921987 RGD:1624216 NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,527
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 susceptibility ISO DNA:SNP:intron:rs3821831, homozygous C allele associated with higher total and HDL cholesterol
ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to
RGD
ClinVar
PMID:14661079 RGD:1627650 NCBI chr13:34,928,455...34,948,250
Ensembl chr13:34,915,855...34,948,229
JBrowse link
G LDLR low density lipoprotein receptor ISO protein:decreased expression: liver
ClinVar Annotator: match by term: Hypercholesterolaemia
ClinVar Annotator: match by term: Hypercholesterolemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1301940, PMID:1301956, PMID:1352322, PMID:1734910, PMID:1933004, PMID:2088165, PMID:3263645, PMID:3475071, PMID:4061492, PMID:4083361, PMID:7573037, PMID:7616128, PMID:7718019, PMID:7820934, PMID:7833932, PMID:8295321, PMID:8535447, PMID:9026534, PMID:9104431, PMID:9237502, PMID:9254862, PMID:9259195, PMID:9409298, PMID:9484998, PMID:9544745, PMID:9544746, PMID:9654205, PMID:9664576, PMID:9676383, PMID:9698020, PMID:9714107, PMID:9763532, PMID:9767373, PMID:9974426, PMID:10090473, PMID:10090484, PMID:10208479, PMID:10230472, PMID:10422803, PMID:10441197, PMID:10532689, PMID:10559517, PMID:10657581, PMID:10735632, PMID:10882754, PMID:11005141, PMID:11139254, PMID:11196104, PMID:11317361, PMID:11435110, PMID:11462246, PMID:11641914, PMID:11668627, PMID:11668640, PMID:11737238, PMID:11754108, PMID:11810272, PMID:11845603, PMID:11857755, PMID:12124988, PMID:12436241, PMID:12492446, PMID:12732381, PMID:14974088, PMID:15199436, PMID:15241806, PMID:15256764, PMID:15359125, PMID:15556094, PMID:15576851, PMID:15701167, PMID:15823276, PMID:15823280, PMID:15823288, PMID:15864114, PMID:15890894, PMID:16020744, PMID:16159606, PMID:16250003, PMID:16314194, PMID:16389549, PMID:16542394, PMID:16627557, PMID:16741953, PMID:17087781, PMID:17094996, PMID:17142622, PMID:17196209, PMID:17335829, PMID:17347910, PMID:17539906, PMID:17765246, PMID:18096825, PMID:18206115, PMID:18263977, PMID:18325082, PMID:18400033, PMID:18450471, PMID:18503695, PMID:18718593, PMID:19026292, PMID:19118540, PMID:19148831, PMID:19208450, PMID:19318025, PMID:19446849, PMID:19520913, PMID:19602640, PMID:19717150, PMID:19837725, PMID:19843101, PMID:20018285, PMID:20028367, PMID:20145306, PMID:20236128, PMID:20428891, PMID:20506408, PMID:20530721, PMID:20538126, PMID:20663204, PMID:21310417, PMID:21376320, PMID:21382890, PMID:21418584, PMID:21475731, PMID:21531209, PMID:21600525, PMID:21600530, PMID:21722902, PMID:21865347, PMID:21925044, PMID:21935675, PMID:21990180, PMID:22294733, PMID:22353362, PMID:22390909, PMID:22398274, PMID:22698793, PMID:22881376, PMID:22883975, PMID:22884763, PMID:22910581, PMID:22923420, PMID:23054246, PMID:23064986, PMID:23130880, PMID:23375686, PMID:23535506, PMID:23651751, PMID:23669246, PMID:23680767, PMID:23833242, PMID:23956253, PMID:24033266, PMID:24055113, PMID:24082139, PMID:24373485, PMID:24503134, PMID:24507775, PMID:24529145, PMID:24585268, PMID:24627126, PMID:24956927, PMID:25154303, PMID:25333069, PMID:25378237, PMID:25437892, PMID:25461735, PMID:25463123, PMID:25487149, PMID:25525159, PMID:25606447, PMID:25637381, PMID:25647241, PMID:25682026, PMID:25741862, PMID:25741868, PMID:25741872, PMID:25769531, PMID:25936317, PMID:26020417, PMID:26036859, PMID:26238499, PMID:26332594, PMID:26361156, PMID:26415676, PMID:26467025, PMID:26748104, PMID:26802169, PMID:26875785, PMID:26892515, PMID:26927322, PMID:27050191, PMID:27175606, PMID:27206935, PMID:27378433, PMID:27497240, PMID:27578128, PMID:27678436, PMID:27680772, PMID:27765764, PMID:27784735, PMID:27824480, PMID:27828139, PMID:27830735, PMID:27878139, PMID:28104544, PMID:28126585, PMID:28145427, PMID:28469073, PMID:28492532, PMID:28502495, PMID:28502510, PMID:28965616, PMID:29172679, PMID:29353225, PMID:29874871, PMID:30293936, PMID:30311386, PMID:30333156, PMID:30583242, PMID:30592178, PMID:31345425 RGD:12910100, RGD:12910104, RGD:1581819, RGD:21410185 NCBI chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,823
JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 ISO DNA:mutation:splice site; mRNA:in-frame deletion; protein:lacks 26 amino acids:beta strands 6 and 7 lost RGD PMID:15599766 RGD:1626107 NCBI chr 6:83,030,629...83,054,387
Ensembl chr 6:83,030,701...83,054,381
JBrowse link
G LEP leptin ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:22948215, PMID:25086370 RGD:12904911 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,447
JBrowse link
G LIPC lipase C, hepatic type ISO associated with Diabetes Mellitus; protein:decreased expression:plasma (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:liver (mouse)
protein, mRNA:decreased expression:plasma, liver (rat)
RGD PMID:6340423, PMID:7830494, PMID:11279518 RGD:2308793, RGD:2308841, RGD:2308850 NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,679...113,604,306
JBrowse link
G LOC110255234 liver carboxylesterase-like ISO CTD Direct Evidence: therapeutic CTD PMID:12773168
G LOC110258578 interleukin-1 beta-like ISO protein:increased expression:serum RGD PMID:17330503 RGD:1626623
G LPL lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypercholesterolemia
CTD
ClinVar
PMID:1598907, PMID:21852083, PMID:30311386 NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814
JBrowse link
G LSS lanosterol synthase ISO mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271
G MIF macrophage migration inhibitory factor ISO mRNA:increased expression:glomerulus RGD PMID:9158105 RGD:1641957 NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,862,317
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271 NCBI chr 6:1,008,100...1,014,303
Ensembl chr 6:1,008,100...1,014,302
JBrowse link
G MYLK myosin light chain kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21052790 NCBI chr13:136,509,878...136,809,674
Ensembl chr13:136,508,808...136,809,674
JBrowse link
G NCF1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14871415 NCBI chr 3:11,820,367...11,834,394
Ensembl chr 3:11,820,285...11,839,426
JBrowse link
G NOX1 NADPH oxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20832062 NCBI chr  X:82,540,664...82,575,811
Ensembl chr  X:82,540,666...82,586,532
JBrowse link
G NPC1L1 NPC1 like intracellular cholesterol transporter 1 ISO RGD PMID:15671032 RGD:1642184 NCBI chr18:50,726,854...50,757,676
Ensembl chr18:50,726,894...50,757,649
JBrowse link
G NPY neuropeptide Y ISO associated with Obesity;DNA:missense mutation:cds:p.L7P (human) RGD PMID:11689216 RGD:1580177 NCBI chr18:47,985,796...47,993,726
Ensembl chr18:47,985,725...47,993,289
JBrowse link
G NR4A3 nuclear receptor subfamily 4 group A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16005304 NCBI chr 1:241,569,867...241,611,735
Ensembl chr 1:241,569,905...241,611,734
JBrowse link
G PAPPA pappalysin 1 ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:14661010, PMID:15531533 RGD:1642328, RGD:1642329 NCBI chr 1:256,544,496...256,784,813
Ensembl chr 1:256,544,928...256,780,779
JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12730697 NCBI chr 6:157,388,370...157,409,620
Ensembl chr 6:157,388,372...157,409,604
JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16229851 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,724
JBrowse link
G PPP1R17 protein phosphatase 1 regulatory subunit 17 ISO ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to ClinVar PMID:12955585 NCBI chr18:41,428,527...41,474,647
Ensembl chr18:41,410,768...41,768,804
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:28492532, PMID:30311386 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225
JBrowse link
G SCAP SREBF chaperone ISO protein:increased expression:liver RGD PMID:16741953 RGD:1581819 NCBI chr13:30,253,262...30,320,625
Ensembl chr13:30,253,268...30,320,526
JBrowse link
G SCARB1 scavenger receptor class B member 1 ISO RGD PMID:15967843 RGD:1580004 NCBI chr14:28,301,421...28,393,568
Ensembl chr14:28,301,294...28,393,565
JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Hypercholesterolemia ClinVar PMID:24448499, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr16:79,838,442...79,862,956 JBrowse link
G SELE selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chr 4:81,289,061...81,299,657 JBrowse link
G SERPINF2 serpin family F member 2 ISO protein:decreased expression:serum RGD PMID:1384011 RGD:1625534 NCBI chr12:47,934,551...47,942,283
Ensembl chr12:47,933,864...47,942,287
JBrowse link
G SOAT2 sterol O-acyltransferase 2 susceptibility ISO RGD PMID:11100118 RGD:1556516 NCBI chr 5:18,358,941...18,371,262
Ensembl chr 5:18,358,673...18,371,264
JBrowse link
G SQLE squalene epoxidase ISO mRNA:increased expression:liver RGD PMID:25168180 RGD:13782271 NCBI chr 4:14,669,789...14,700,152
Ensembl chr 4:14,669,791...14,700,126
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 ISO protein:altered localization:liver RGD PMID:16741953 RGD:1581819 NCBI chr12:60,733,967...60,750,951
Ensembl chr12:60,733,907...60,751,265
JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO DNA:polymorphism: :1784G>C (human)
DNA:mutations:exon:p.V623M, p.R645Q (human)
protein:altered localization:liver
RGD PMID:11950857, PMID:15547298, PMID:16741953, PMID:18095312 RGD:1581415, RGD:1581819, RGD:1625197, RGD:2308813 NCBI chr 5:6,719,484...6,784,724
Ensembl chr 5:6,719,487...6,784,672
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14602771 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,908...117,511,226
JBrowse link
G VEGFA vascular endothelial growth factor A ISO associated with Carcinoma, Ductal, Breast RGD PMID:15491965 RGD:8655598 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
G VLDLR very low density lipoprotein receptor ISO RGD PMID:8636110 RGD:1625573 NCBI chr 1:219,178,501...219,210,332
Ensembl chr 1:219,173,504...219,210,343
JBrowse link
Hypercholesterolemia, Autosomal Dominant, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOB apolipoprotein B ISO ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 ClinVar PMID:25741868 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 ISO OMIM NCBI chr 6:157,388,370...157,409,620
Ensembl chr 6:157,388,372...157,409,604
JBrowse link
Hyperlipidemia, Combined, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USF1 upstream transcription factor 1 susceptibility ISO OMIM NCBI chr 4:89,395,133...89,401,048
Ensembl chr 4:89,395,195...89,401,047
JBrowse link
Hyperlipoproteinemia Type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492
JBrowse link
G ADRB2 adrenoceptor beta 2 ISO DNA:polymorphism: :p.Q27E RGD PMID:17020471 RGD:1601121 NCBI chr 2:150,032,649...150,035,591
Ensembl chr 2:150,032,782...150,035,591
JBrowse link
G APOA1 apolipoprotein A1 ISO DNA:polymorphism:promoter:-75G>A (human) RGD PMID:9699897 RGD:1601186 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,393...44,218,978
JBrowse link
G APOA2 apolipoprotein A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12522687 NCBI chr 4:89,237,514...89,239,126
Ensembl chr 4:89,237,511...89,240,320
JBrowse link
G APOA4 apolipoprotein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 9:44,201,587...44,204,072
Ensembl chr 9:44,201,508...44,204,206
JBrowse link
G APOB apolipoprotein B ISO OMIM NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
G APOC3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 9:44,211,171...44,213,538 JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,225...84,402,956
JBrowse link
G LDLR low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia
ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B
ClinVar Annotator: match by term: Hyperlipoproteinemia Type II
ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA
DNA:deletion: :p.G197del (human)
CTD
ClinVar
RGD
PMID:1301940, PMID:1301956, PMID:1319734, PMID:1352322, PMID:1453433, PMID:1464748, PMID:1493640, PMID:1734910, PMID:1830890, PMID:1867200, PMID:1884514, PMID:1933004, PMID:1952806, PMID:1959928, PMID:1978682, PMID:1999337, PMID:2029498, PMID:2088165, PMID:2318961, PMID:2352257, PMID:2569482, PMID:2600087, PMID:2698793, PMID:2726768, PMID:2760205, PMID:2901412, PMID:2920733, PMID:3020025, PMID:3025214, PMID:3198114, PMID:3202825, PMID:3263645, PMID:3425583, PMID:3472763, PMID:3815525, PMID:4061492, PMID:7489239, PMID:7548065, PMID:7573037, PMID:7583548, PMID:7603991, PMID:7616128, PMID:7635461, PMID:7649546, PMID:7649549, PMID:7718019, PMID:7718024, PMID:7749829, PMID:7894220, PMID:7903864, PMID:7947594, PMID:7979249, PMID:8054972, PMID:8093663, PMID:8096412, PMID:8098448, PMID:8347689, PMID:8399083, PMID:8535447, PMID:8645371, PMID:8828982, PMID:8829662, PMID:8850176, PMID:8882879, PMID:8911609, PMID:9016531, PMID:9026534, PMID:9048913, PMID:9104431, PMID:9157944, PMID:9254862, PMID:9259195, PMID:9272705, PMID:9409298, PMID:9430375, PMID:9452078, PMID:9452095, PMID:9484998, PMID:9654205, PMID:9664576, PMID:9676383, PMID:9678702, PMID:9698020, PMID:9712531, PMID:9714107, PMID:9727746, PMID:9763532, PMID:9767373, PMID:9974426, PMID:10090473, PMID:10090484, PMID:10208479, PMID:10407508, PMID:10422803, PMID:10422804, PMID:10441197, PMID:10532689, PMID:10559517, PMID:10634824, PMID:10657581, PMID:10704205, PMID:10735632, PMID:10782930, PMID:10790219, PMID:10807540, PMID:10882754, PMID:10952765, PMID:10978268, PMID:11031227, PMID:11040093, PMID:11052664, PMID:11139254, PMID:11196104, PMID:11313767, PMID:11317361, PMID:11317362, PMID:11373616, PMID:11381031, PMID:11462246, PMID:11491306, PMID:11585102, PMID:11600564, PMID:11641914, PMID:11668627, PMID:11668640, PMID:11754108, PMID:11810272, PMID:11845603, PMID:11851376, PMID:11857755, PMID:11933210, PMID:12009418, PMID:12113284, PMID:12124988, PMID:12406975, PMID:12417285, PMID:12436241, PMID:12477733, PMID:12522687, PMID:12553167, PMID:12673584, PMID:12730724, PMID:12732381, PMID:12837857, PMID:14209286, PMID:14508510, PMID:14512370, PMID:14749324, PMID:14974088, PMID:14993243, PMID:15100232, PMID:15199436, PMID:15200491, PMID:15241806, PMID:15256764, PMID:15359125, PMID:15523646, PMID:15528480, PMID:15556092, PMID:15556093, PMID:15556094, PMID:15701167, PMID:15823276, PMID:15823280, PMID:15864114, PMID:15936313, PMID:16020744, PMID:16159606, PMID:16183066, PMID:16205024, PMID:16250003, PMID:16314194, PMID:16343504, PMID:16389549, PMID:16542394, PMID:16627557, PMID:16796766, PMID:17087781, PMID:17094996, PMID:17142622, PMID:17196209, PMID:17335829, PMID:17347910, PMID:17406740, PMID:17426749, PMID:17539906, PMID:17765246, PMID:18096825, PMID:18206115, PMID:18239150, PMID:18263977, PMID:18279815, PMID:18325082, PMID:18503695, PMID:18677035, PMID:18700895, PMID:18718593, PMID:18757057, PMID:18847225, PMID:18929537, PMID:19007590, PMID:19013141, PMID:19026292, PMID:19118540, PMID:19148831, PMID:19208450, PMID:19318025, PMID:19319977, PMID:19361455, PMID:19411563, PMID:19446849, PMID:19467224, PMID:19538517, PMID:19602640, PMID:19717150, PMID:19843101, PMID:20045108, PMID:20145306, PMID:20236128, PMID:20506408, PMID:20538126, PMID:20663204, PMID:20809525, PMID:20828696, PMID:21145767, PMID:21276076, PMID:21310417, PMID:21376320, PMID:21382890, PMID:21418584, PMID:21475731, PMID:21511053, PMID:21531209, PMID:21600525, PMID:21600530, PMID:21642693, PMID:21722902, PMID:21865347, PMID:21925044, PMID:21935675, PMID:21990180, PMID:22095935, PMID:22294733, PMID:22353362, PMID:22390909, PMID:22398274, PMID:22487947, PMID:22698793, PMID:22859806, PMID:22881376, PMID:22883975, PMID:23054246, PMID:23064986, PMID:23155708, PMID:23375686, PMID:23510778, PMID:23651751, PMID:23669246, PMID:23680767, PMID:23833242, PMID:23956253, PMID:24014831, PMID:24033266, PMID:24075752, PMID:24281370, PMID:24507775, PMID:24585268, PMID:24627126, PMID:24956927, PMID:25154303, PMID:25282520, PMID:25378237, PMID:25412742, PMID:25461735, PMID:25463123, PMID:25487149, PMID:25525159, PMID:25545329, PMID:25637381, PMID:25647241, PMID:25741868, PMID:25741871, PMID:25769531, PMID:25911074, PMID:25921077, PMID:25962062, PMID:26020417, PMID:26036859, PMID:26046366, PMID:26238499, PMID:26343872, PMID:26433113, PMID:26467025, PMID:26633542, PMID:26748104, PMID:26892515, PMID:26927322, PMID:27206935, PMID:27247956, PMID:27542166, PMID:27578127, PMID:27678436, PMID:27680772, PMID:27765764, PMID:27783906, PMID:27784735, PMID:27816806, PMID:27821657, PMID:27824480, PMID:28008010, PMID:28028493, PMID:28104544, PMID:28126585, PMID:28145427, PMID:28161202, PMID:28169869, PMID:28235710, PMID:28349240, PMID:28379029, PMID:28391882, PMID:28458923, PMID:28492532, PMID:28502510, PMID:28873201, PMID:28895539, PMID:28964736, PMID:28965616, PMID:29233637, PMID:29284604, PMID:29353225, PMID:29874871, PMID:30270055, PMID:30293936, PMID:30586733, PMID:30592178, PMID:31345425, PMID:220236128 RGD:1581824, RGD:5490248 NCBI chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,823
JBrowse link
G LIPC lipase C, hepatic type ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,679...113,604,306
JBrowse link
G LPL lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:16280123 RGD:1642031 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G MTTP microsomal triglyceride transfer protein ISO RGD PMID:17215532 RGD:1625482 NCBI chr 8:120,820,660...120,871,468
Ensembl chr 8:120,819,142...120,879,388
JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 severity ISO DNA:missense mutation:cds:p.D374Y (human)
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia
DNA:missense mutations:cds:p.S127R, p.F216L (human)
RGD
ClinVar
PMID:12730697, PMID:14727179, PMID:15654334, PMID:15772090, PMID:16424354, PMID:16554528, PMID:16571601, PMID:17316651, PMID:18354102, PMID:19351729, PMID:19797716, PMID:19917273, PMID:20006333, PMID:20031607, PMID:20579540, PMID:21146822, PMID:23743349, PMID:24033266, PMID:24507774, PMID:24859021, PMID:25014035, PMID:25278291, PMID:25412415, PMID:25741868, PMID:25962062, PMID:26049403, PMID:26374825, PMID:26467025, PMID:26632531, PMID:27135400, PMID:27218270, PMID:27280970, PMID:27765764, PMID:28179607, PMID:28492532, PMID:28768753, PMID:28965616, PMID:29083407, PMID:29261184, PMID:29997226 RGD:1580998, RGD:1581001, RGD:1581002 NCBI chr 6:157,388,370...157,409,620
Ensembl chr 6:157,388,372...157,409,604
JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523, PMID:16238680 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,724
JBrowse link
G PON2 paraoxonase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chr 9:75,027,270...75,051,441
Ensembl chr 9:75,027,097...75,051,422
JBrowse link
hyperlipoproteinemia type III 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 PMID:16143024 NCBI chr 9:44,177,834...44,180,880 JBrowse link
G APOC3 apolipoprotein C3 ISO RGD PMID:2879788 RGD:1578447 NCBI chr 9:44,211,171...44,213,538 JBrowse link
G APOE apolipoprotein E ISO OMIM NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
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 9:44,177,834...44,180,880 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 2:74,578,471...74,588,269
Ensembl chr 2:74,578,486...74,601,784
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 OMIM NCBI chr 9:44,177,834...44,180,880 JBrowse link
Hyperlipoproteinemias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA4 apolipoprotein A4 ISO protein:increased expression:blood plasma (human) RGD PMID:226830 RGD:5685673 NCBI chr 9:44,201,587...44,204,072
Ensembl chr 9:44,201,508...44,204,206
JBrowse link
G APOA5 apolipoprotein A5 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C, p.S19W (human) RGD PMID:18468520 RGD:2313317 NCBI chr 9:44,177,834...44,180,880 JBrowse link
G APOC2 apolipoprotein C2 susceptibility ISO protein:increased expression:serum
DNA:missense mutation: :p.L72P (human)
RGD PMID:1468157, PMID:16153625 RGD:1601204, RGD:1601208 NCBI chr 6:51,404,219...51,406,302 JBrowse link
G APOC3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2022742 NCBI chr 9:44,211,171...44,213,538 JBrowse link
G APOH apolipoprotein H ISO RGD PMID:6613192 RGD:2313992 NCBI chr12:12,827,195...12,839,172
Ensembl chr12:12,827,201...12,839,175
JBrowse link
G LIPC lipase C, hepatic type ISO CTD Direct Evidence: marker/mechanism
associated with Obesity and Diabetes; DNA:transition:promoter:-514C>T (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human)
associated with Nephrosis; protein:decreased expression:plasma (rat)
CTD
RGD
PMID:6480830, PMID:11427226, PMID:15941898, PMID:18160998 RGD:2308798, RGD:2308829, RGD:2308834 NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,679...113,604,306
JBrowse link
G PON1 paraoxonase 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11015468, PMID:15324535 RGD:731237, RGD:8547684 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,724
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:10828087 NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,708...3,366,361
JBrowse link
G SERPINF2 serpin family F member 2 ISO RGD PMID:6121140 RGD:1625537 NCBI chr12:47,934,551...47,942,283
Ensembl chr12:47,933,864...47,942,287
JBrowse link
Hypertriglyceridemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP1 acid phosphatase 1 ISO associated with Obesity RGD PMID:12409270 RGD:1625288 NCBI chr 3:132,671,408...132,684,793 JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO associated with HIV Infections RGD PMID:21595566 RGD:8694463 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,684...124,646,648
JBrowse link
G AHSG alpha 2-HS glycoprotein ISO protein:increased expression:serum RGD PMID:19228823 RGD:2313809 NCBI chr13:124,426,313...124,438,848
Ensembl chr13:124,426,308...124,438,840
JBrowse link
G ANGPTL3 angiopoietin like 3 ISO RGD PMID:12672813 RGD:1578347 NCBI chr 6:149,836,417...149,845,854
Ensembl chr 6:149,832,541...149,845,831
JBrowse link
G ANGPTL4 angiopoietin like 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28842503 NCBI chr 2:70,905,767...70,912,892
Ensembl chr 2:70,904,531...70,912,974
JBrowse link
G APOA1 apolipoprotein A1 no_association ISO DNA:polymorphism:promoter:-75G>A RGD PMID:7910586 RGD:1601187 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,393...44,218,978
JBrowse link
G APOA2 apolipoprotein A2 ISO DNA:polymorphism RGD PMID:9489233 RGD:1601190 NCBI chr 4:89,237,514...89,239,126
Ensembl chr 4:89,237,511...89,240,320
JBrowse link
G APOA4 apolipoprotein A4 ISO human gene in mouse model RGD PMID:2167514 RGD:5685672 NCBI chr 9:44,201,587...44,204,072
Ensembl chr 9:44,201,508...44,204,206
JBrowse link
G APOA5 apolipoprotein A5 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C (human)
ClinVar Annotator: match by term: Hypertriglyceridemia, susceptibility to
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:11588264, PMID:12417524, PMID:12417525, PMID:12818421, PMID:12915450, PMID:16238453, PMID:18468520, PMID:20657596, PMID:23151256, PMID:23307945, PMID:24387992, PMID:25741868 RGD:1578414, RGD:2313317, RGD:2313328 NCBI chr 9:44,177,834...44,180,880 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 chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
G APOC2 apolipoprotein C2 susceptibility ISO RGD PMID:3944267, PMID:7590197 RGD:1601205, RGD:1601214 NCBI chr 6:51,404,219...51,406,302 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 9:44,211,171...44,213,538 JBrowse link
G APOE apolipoprotein E susceptibility ISO associated with Metabolic Syndrome X; DNA:missense mutations:cds:p.C112R, p.R158C (human)
ClinVar Annotator: match by term: Hypertriglyceridemia
RGD
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:15713714, PMID:19605830, PMID:22381401, PMID:23060451, PMID:23296339, PMID:23571587, PMID:24033266, PMID:25741868, PMID:27260402, PMID:28492532, PMID:28808185, PMID:30311386 RGD:13703132, RGD:1601235 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism
associated with diabetes mellitus
CTD
RGD
PMID:8149699, PMID:23000450 RGD:1601335 NCBI chr13:104,946,732...105,007,568 JBrowse link
G CELA2A chymotrypsin-like elastase family, member 2A ISO ClinVar Annotator: match by term: Hypertriglyceridemia ClinVar PMID:31358993 NCBI chr 6:74,691,653...74,707,598
Ensembl chr 6:74,691,653...74,707,598
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 chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
JBrowse link
G CRP C-reactive protein, pentraxin-related ISO CTD Direct Evidence: therapeutic CTD PMID:11893366 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,722,352...90,805,236
JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 treatment ISO RGD PMID:18183944 RGD:10401058 NCBI chr 4:452,890...463,665
Ensembl chr 4:452,861...466,883
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 chr11:78,512,389...78,518,668
Ensembl chr11:78,512,158...78,518,671
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 chr 8:104,464,342...104,468,059
Ensembl chr 8:104,464,342...104,470,480
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:22947172 RGD:10449176 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,025,257...125,041,033
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 3:111,649,557...111,683,539
Ensembl chr 3:111,644,158...111,683,660
JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO RGD PMID:11118009 RGD:1625423 NCBI chr 3:73,028,750...73,086,191
Ensembl chr 3:72,983,188...73,085,319
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 chr17:46,783,772...46,847,505
Ensembl chr17:46,783,777...46,847,503
JBrowse link
G IL6ST interleukin 6 signal transducer ISO RGD PMID:8843746 RGD:1626687 NCBI chr16:35,101,304...35,151,832
Ensembl chr16:35,101,304...35,211,982
JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841
JBrowse link
G INSIG1 insulin induced gene 1 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chr18:2,885,494...2,898,758
Ensembl chr18:2,885,611...2,898,767
JBrowse link
G INSIG2 insulin induced gene 2 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chr15:23,676,684...23,699,591
Ensembl chr15:23,676,683...23,699,585
JBrowse link
G LCAT lecithin-cholesterol acyltransferase ISO RGD PMID:14668345 RGD:1581782 NCBI chr 6:28,550,356...28,553,561
Ensembl chr 6:28,550,357...28,553,567
JBrowse link
G LDLR low density lipoprotein receptor ISO RGD PMID:27378433, PMID:28469073 RGD:12910100, RGD:12910104 NCBI chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,823
JBrowse link
G LEP leptin ISO RGD PMID:22948215 RGD:12904911 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,447
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 chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,679...113,604,306
JBrowse link
G LIPE lipase E, hormone sensitive type ISO RGD PMID:11016888 RGD:2313581 NCBI chr 6:49,543,671...49,560,126
Ensembl chr 6:49,540,907...49,560,126
JBrowse link
G LIPI lipase I susceptibility ISO DNA:polymorphism: :p.C55Y
ClinVar Annotator: match by term: Hypertriglyceridemia, susceptibility to
RGD
ClinVar
PMID:12719377 RGD:1625450 NCBI chr13:179,128,549...179,180,612
Ensembl chr13:179,128,928...179,176,215
JBrowse link
G LMF1 lipase maturation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17994020 NCBI chr 3:40,841,242...40,929,163
Ensembl chr 3:40,830,216...40,934,254
JBrowse link
G LPL lipoprotein lipase susceptibility ISO ClinVar Annotator: match by term: Hypertriglyceridemia
CTD Direct Evidence: marker/mechanism|therapeutic
RGD
ClinVar
CTD
PMID:8147947, PMID:11016888, PMID:16431216, PMID:17848837, PMID:20657596, PMID:25741868 RGD:1580533, RGD:2313305, RGD:2313581 NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814
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 chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,039...23,698,302
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO associated with Insulin Resistance RGD PMID:20566415 RGD:10040984 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
JBrowse link
G NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 ISO associated with obesity RGD PMID:20729114 RGD:13801195 NCBI chr10:33,849,206...33,865,080
Ensembl chr10:33,470,106...33,865,231
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:decreased expression:aorta RGD PMID:17824809 RGD:2292131 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G PDE5A phosphodiesterase 5A ISO RGD PMID:18787522 RGD:2314464 NCBI chr 8:104,270,858...104,420,955
Ensembl chr 8:104,270,881...104,420,947
JBrowse link
G PLIN2 perilipin 2 ISO associated with Obesity RGD PMID:17484887 RGD:1625752 NCBI chr 1:203,683,867...203,709,277
Ensembl chr 1:203,683,862...203,709,274
JBrowse link
G PLTP phospholipid transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr17:48,089,789...48,101,604
Ensembl chr17:48,089,785...48,101,515
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,708...3,366,361
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 4:76,724,604...76,730,264
Ensembl chr 4:76,724,604...76,734,610
JBrowse link
G RPS12 ribosomal protein S12 ISO associated with Metabolic Syndrome X;mRNA:increased expression:liver RGD PMID:25294893 RGD:11039460 NCBI chr 1:30,920,804...30,923,392
Ensembl chr 1:30,920,808...30,923,658
JBrowse link
G SERPINF2 serpin family F member 2 ISO protein:increased expression:plasma RGD PMID:9207984 RGD:1625533 NCBI chr12:47,934,551...47,942,283
Ensembl chr12:47,933,864...47,942,287
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr 3:31,879,143...31,883,041
Ensembl chr 3:31,881,225...31,884,969
JBrowse link
G SOCS3 suppressor of cytokine signaling 3 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr12:3,643,832...3,647,015
Ensembl chr12:3,643,929...3,647,012
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 1:143,718,295...143,856,968
Ensembl chr 1:143,709,864...143,855,984
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 4:99,348,589...99,351,760
Ensembl chr 4:99,348,575...99,352,241
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 chr 1:219,178,501...219,210,332
Ensembl chr 1:219,173,504...219,210,343
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 OMIM NCBI chr 5:16,008,179...16,021,676
Ensembl chr 5:16,007,448...16,017,825
JBrowse link
Hypoalphalipoproteinemias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia
ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease
CTD
ClinVar
PMID:10431237, PMID:10706591, PMID:10938021, PMID:11238261, PMID:11257261, PMID:11476965, PMID:12009425, PMID:12111381, PMID:12204794, PMID:12624133, PMID:12763760, PMID:15297675, PMID:15486467, PMID:15520867, PMID:15790791, PMID:15935359, PMID:16226177, PMID:16343503, PMID:16372134, PMID:16429166, PMID:16806540, PMID:16855366, PMID:16873719, PMID:17303779, PMID:17383594, PMID:18199144, PMID:18523221, PMID:18776170, PMID:19133158, PMID:19202195, PMID:19596329, PMID:19743957, PMID:20011639, PMID:20093111, PMID:20418488, PMID:20427018, PMID:20656214, PMID:20800056, PMID:21315358, PMID:21860089, PMID:21875686, PMID:22923419, PMID:22923420, PMID:22995991, PMID:23087442, PMID:23139370, PMID:23152888, PMID:23376243, PMID:23559627, PMID:23685560, PMID:23770607, PMID:24036952, PMID:24497850, PMID:24503134, PMID:24894453, PMID:25215231, PMID:25741868, PMID:26255038, PMID:26350511, PMID:27884173, PMID:28492532, PMID:28870971, PMID:29224928, PMID:29535370 NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492
JBrowse link
G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: High density lipoprotein deficiency
ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia
ClinVar PMID:1901417, PMID:8240372, PMID:9931341, PMID:17303779, PMID:20884842, PMID:21820994, PMID:23209431, PMID:23770607, PMID:24081495, PMID:25034063, PMID:26530418, PMID:27135400, PMID:27785680, PMID:28492532, PMID:29353225 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,393...44,218,978
JBrowse link
hypobetalipoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOB apolipoprotein B susceptibility ISO ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL
ClinVar Annotator: match by term: Hypobetalipoproteinemia
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia
protein:decreased expression:plasma
RGD
ClinVar
PMID:221546, PMID:1360085, PMID:1424233, PMID:1431583, PMID:1454832, PMID:1466657, PMID:1493642, PMID:1562615, PMID:1600334, PMID:1602000, PMID:1793440, PMID:1977310, PMID:2022744, PMID:2280177, PMID:2312735, PMID:2375782, PMID:2563166, PMID:2567736, PMID:2574033, PMID:2725600, PMID:2843815, PMID:2903181, PMID:3399894, PMID:3473077, PMID:3477815, PMID:3771801, PMID:7627691, PMID:7670940, PMID:7883971, PMID:8141833, PMID:8254047, PMID:8318509, PMID:8318993, PMID:8371062, PMID:8468533, PMID:8478017, PMID:8723684, PMID:8792774, PMID:8831935, PMID:8889592, PMID:8931699, PMID:8960785, PMID:9081691, PMID:9104431, PMID:9105560, PMID:9191540, PMID:9254062, PMID:9259199, PMID:9339363, PMID:9486979, PMID:9490296, PMID:9568749, PMID:9603795, PMID:9654205, PMID:9702952, PMID:9925662, PMID:10208479, PMID:10388479, PMID:10529757, PMID:10735632, PMID:10952765, PMID:11031227, PMID:11115503, PMID:11137107, PMID:11238294, PMID:11494965, PMID:11781700, PMID:11810272, PMID:11833852, PMID:11940084, PMID:11941481, PMID:12124991, PMID:12655413, PMID:14732481, PMID:15135245, PMID:15797858, PMID:15805152, PMID:16250003, PMID:16728468, PMID:17046772, PMID:17087781, PMID:17142622, PMID:17160438, PMID:17539906, PMID:17570373, PMID:17588943, PMID:17595251, PMID:17765246, PMID:17964958, PMID:17968143, PMID:18022922, PMID:18028451, PMID:18096825, PMID:18160469, PMID:18222178, PMID:18258526, PMID:18279815, PMID:18325181, PMID:18355452, PMID:18492086, PMID:18700895, PMID:18710658, PMID:19602640, PMID:20032471, PMID:20145306, PMID:20167924, PMID:20236128, PMID:20506408, PMID:20538126, PMID:20592474, PMID:20657596, PMID:20736250, PMID:20809525, PMID:20828696, PMID:21059979, PMID:21310417, PMID:21376320, PMID:21382890, PMID:21408211, PMID:21520333, PMID:21657943, PMID:21722902, PMID:21862702, PMID:21868016, PMID:21919778, PMID:21981844, PMID:22095935, PMID:22244043, PMID:22256951, PMID:22294733, PMID:22353362, PMID:22408029, PMID:22534770, PMID:22698793, PMID:22855658, PMID:22883975, PMID:22923420, PMID:23054246, PMID:23064986, PMID:23130880, PMID:23375686, PMID:23593297, PMID:23680767, PMID:23685560, PMID:23775634, PMID:23833242, PMID:23936638, PMID:24033266, PMID:24106285, PMID:24234650, PMID:24404629, PMID:24498611, PMID:24503134, PMID:24507774, PMID:24507775, PMID:24607922, PMID:24751931, PMID:24784157, PMID:24956927, PMID:24987033, PMID:25335495, PMID:25461735, PMID:25741868, PMID:26020417, PMID:26036859, PMID:26064709, PMID:26332594, PMID:26415676, PMID:26467025, PMID:26636822, PMID:26643808, PMID:26666465, PMID:26802169, PMID:27153395, PMID:27206935, PMID:27497240, PMID:27578127, PMID:27654142, PMID:27765764, PMID:27783906, PMID:27884173, PMID:27919364, PMID:27932355, PMID:28008009, PMID:28428224, PMID:28431867, PMID:28475941, PMID:28492532, PMID:28895539, PMID:28958330, PMID:28965616, PMID:29036232, PMID:29261184, PMID:29572815, PMID:29598884, PMID:30056620, PMID:30122538, PMID:30270084, PMID:30311386, PMID:30526649, PMID:30842500, PMID:31345425 RGD:1599164, RGD:1601203 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
G APOC2 apolipoprotein C2 ISO protein:decreased expression:plasma RGD PMID:2242096 RGD:1601212 NCBI chr 6:51,404,219...51,406,302 JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 ISO DNA:insertion:cds:c.43_44CTG (human)
ClinVar Annotator: match by term: Hypobetalipoproteinemia
ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia
RGD
ClinVar
PMID:11668641, PMID:12175777, PMID:12730697, PMID:14727156, PMID:15358785, PMID:15654334, PMID:15893176, PMID:16183066, PMID:16211558, PMID:16424354, PMID:16465619, PMID:16554528, PMID:16571601, PMID:16619215, PMID:16912035, PMID:17094996, PMID:17140581, PMID:17170371, PMID:17316651, PMID:17461796, PMID:17502126, PMID:17765244, PMID:17804797, PMID:17971861, PMID:18197702, PMID:18262190, PMID:18266662, PMID:18300938, PMID:18354102, PMID:18559913, PMID:18710658, PMID:18799458, PMID:19001363, PMID:19022446, PMID:19081568, PMID:19191301, PMID:19351729, PMID:19797716, PMID:19917273, PMID:20006333, PMID:20031607, PMID:20172854, PMID:20579540, PMID:20959675, PMID:21146822, PMID:21943799, PMID:22095935, PMID:22923420, PMID:23105118, PMID:23375686, PMID:23386946, PMID:23663650, PMID:23743349, PMID:23935525, PMID:24033266, PMID:24278757, PMID:24507774, PMID:24507775, PMID:24785115, PMID:24808179, PMID:24859021, PMID:25014035, PMID:25046268, PMID:25278291, PMID:25412415, PMID:25600226, PMID:25741868, PMID:25744035, PMID:25904937, PMID:25962062, PMID:26020417, PMID:26049403, PMID:26195630, PMID:26332594, PMID:26374825, PMID:26467025, PMID:26541928, PMID:26546829, PMID:26632531, PMID:26636822, PMID:26802169, PMID:26937405, PMID:27135400, PMID:27206942, PMID:27218270, PMID:27280970, PMID:27516387, PMID:27765764, PMID:27919364, PMID:28008010, PMID:28179607, PMID:28302345, PMID:28323660, PMID:28360401, PMID:28438747, PMID:28492532, PMID:28587771, PMID:28768753, PMID:28777095, PMID:28965616, PMID:29083407, PMID:29127338, PMID:29259136, PMID:29261184, PMID:29438441, PMID:29459468, PMID:29593013, PMID:29997226, PMID:31106297 RGD:1580999 NCBI chr 6:157,388,370...157,409,620
Ensembl chr 6:157,388,372...157,409,604
JBrowse link
Hypocholesterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCSK9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Hypocholesterolemia ClinVar PMID:15654334, PMID:16424354, PMID:16554528, PMID:16571601, PMID:18354102, PMID:19351729, PMID:19797716, PMID:19917273, PMID:20031607, PMID:20579540, PMID:23743349, PMID:24507774, PMID:25278291, PMID:25412415, PMID:25741868, PMID:26049403, PMID:26467025, PMID:27135400, PMID:27218270, PMID:27280970, PMID:27765764, PMID:28492532, PMID:28768753, PMID:28965616, PMID:29083407, PMID:29261184, PMID:29997226 NCBI chr 6:157,388,370...157,409,620
Ensembl chr 6:157,388,372...157,409,604
JBrowse link
G UCP3 uncoupling protein 3 ISO RGD PMID:10935638 RGD:737762 NCBI chr 9:8,378,023...8,389,452
Ensembl chr 9:8,378,019...8,386,211
JBrowse link
hypolipoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO RGD PMID:11086027 RGD:1600951 NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492
JBrowse link
G APOA1 apolipoprotein A1 ISO RGD PMID:9931341 RGD:734583 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,393...44,218,978
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO mRNA:increased expression:macrophage RGD PMID:17322100 RGD:1625405
Norum disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LCAT lecithin-cholesterol acyltransferase ISO OMIM NCBI chr 6:28,550,356...28,553,561
Ensembl chr 6:28,550,357...28,553,567
JBrowse link
G SLC12A4 solute carrier family 12 member 4 ISO ClinVar Annotator: match by term: Fish-eye disease ClinVar PMID:1571050 NCBI chr 6:28,554,162...28,576,458
Ensembl chr 6:28,550,356...28,576,505
JBrowse link
sitosterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG5 ATP binding cassette subfamily G member 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sitosterolemia
CTD
ClinVar
RGD
PMID:11099417, PMID:11138003, PMID:11452359, PMID:11907139, PMID:15375183, PMID:17228349, PMID:17976197, PMID:19111681, PMID:20521169, PMID:20543520, PMID:20719861, PMID:21729603, PMID:24033266, PMID:24166850, PMID:24423340, PMID:25665839, PMID:25741868, PMID:26813946, PMID:27291889, PMID:28203044, PMID:28492532, PMID:28521186, PMID:28771437, PMID:29353225, PMID:29886606, PMID:30985648, PMID:31060161, PMID:31064749 RGD:631968 NCBI chr 3:96,616,304...96,656,893
Ensembl chr 3:96,616,246...96,656,893
JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sitosterolemia
CTD
ClinVar
RGD
PMID:3706300, PMID:4360855, PMID:6110091, PMID:11099417, PMID:11264985, PMID:11452359, PMID:11893785, PMID:12124998, PMID:15054092, PMID:15996216, PMID:16029460, PMID:17632509, PMID:20854103, PMID:21039838, PMID:21274884, PMID:22898925, PMID:23241408, PMID:24033266, PMID:24657386, PMID:25073796, PMID:25741868, PMID:27291889, PMID:28492532, PMID:28521186, PMID:28739549, PMID:31064749 RGD:1300331, RGD:631968 NCBI chr 3:96,596,975...96,616,224
Ensembl chr 3:96,594,778...96,616,229
JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Sitosterolemia ClinVar PMID:11138003, PMID:11907139, PMID:15375183, PMID:17228349, PMID:17976197, PMID:19111681, PMID:20521169, PMID:20543520, PMID:20719861, PMID:21729603, PMID:24033266, PMID:24166850, PMID:24423340, PMID:25665839, PMID:25741868, PMID:26813946, PMID:28203044, PMID:28492532, PMID:28521186, PMID:28771437, PMID:29353225, PMID:29886606, PMID:30985648, PMID:31060161 NCBI chr 3:96,656,099...96,703,282
Ensembl chr 3:96,655,098...96,703,318
JBrowse link
Sitosterolemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Sitosterolemia 1 ClinVar PMID:11668628, PMID:24503134, PMID:25741868, PMID:27291889, PMID:28492532, PMID:31064749 NCBI chr 3:96,616,304...96,656,893
Ensembl chr 3:96,616,246...96,656,893
JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 ISO OMIM NCBI chr 3:96,596,975...96,616,224
Ensembl chr 3:96,594,778...96,616,229
JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Sitosterolemia 1 ClinVar PMID:11668628, PMID:24503134, PMID:25741868, PMID:28492532, PMID:31064749 NCBI chr 3:96,656,099...96,703,282
Ensembl chr 3:96,655,098...96,703,318
JBrowse link
Sitosterolemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG5 ATP binding cassette subfamily G member 5 ISO OMIM NCBI chr 3:96,616,304...96,656,893
Ensembl chr 3:96,616,246...96,656,893
JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: SITOSTEROLEMIA 2 ClinVar PMID:16029460, PMID:20719861 NCBI chr 3:96,596,975...96,616,224
Ensembl chr 3:96,594,778...96,616,229
JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: SITOSTEROLEMIA 2 ClinVar PMID:11099417, PMID:11138003, PMID:11907139, PMID:15375183, PMID:17228349, PMID:17976197, PMID:19111681, PMID:20521169, PMID:20543520, PMID:20719861, PMID:21729603, PMID:24033266, PMID:24166850, PMID:24423340, PMID:25665839, PMID:25741868, PMID:26813946, PMID:28203044, PMID:28492532, PMID:28521186, PMID:28771437, PMID:29353225, PMID:29886606, PMID:30985648, PMID:31060161 NCBI chr 3:96,656,099...96,703,282
Ensembl chr 3:96,655,098...96,703,318
JBrowse link
Smith-Lemli-Opitz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHCR7 7-dehydrocholesterol reductase ISO OMIM NCBI chr 2:2,377,352...2,391,846
Ensembl chr 2:2,377,416...2,391,448
JBrowse link
G NADSYN1 NAD synthetase 1 ISO ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome ClinVar PMID:23042628, PMID:25040602, PMID:25741868, PMID:28492532 NCBI chr 2:2,334,793...2,372,356
Ensembl chr 2:2,334,793...2,372,355
JBrowse link
G PAX6 paired box 6 ISO protein:altered expression:embryo, forebrain, hindbrain (rat) RGD PMID:10564872 RGD:8552380 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200
JBrowse link
Tangier disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO OMIM NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492
JBrowse link
G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Tangier disease
ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency
ClinVar PMID:8282791 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,393...44,218,978
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12641
    Nutritional and Metabolic Diseases 3655
      disease of metabolism 3655
        lipid metabolism disorder 729
          Dyslipidemias 184
            Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d 0
            Hooft Disease 0
            Hypocholesterolemia 2
            Smith-Lemli-Opitz syndrome + 3
            familial hyperlipidemia + 163
            hypolipoproteinemia + 13
Path 2
Term Annotations click to browse term
  disease 12641
    Developmental Diseases 8955
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7805
        genetic disease 7352
          inherited metabolic disorder 1997
            lipid metabolism disorder 729
              Dyslipidemias 184
                Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d 0
                Hooft Disease 0
                Hypocholesterolemia 2
                Smith-Lemli-Opitz syndrome + 3
                familial hyperlipidemia + 163
                hypolipoproteinemia + 13
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.