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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:hypolipoproteinemia
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Accession:DOID:1387 term browser browse the term
Definition:Conditions with abnormally low levels of LIPOPROTEINS in the blood. This may involve any of the lipoprotein subclasses, including ALPHA-LIPOPROTEINS (high-density lipoproteins); BETA-LIPOPROTEINS (low-density lipoproteins); and PREBETA-LIPOPROTEINS (very-low-density lipoproteins).
Synonyms:exact_synonym: Hypolipoproteinaemia;   Hypoprebetalipoproteinemia;   hypolipoproteinemias
 related_synonym: Lipoprotein deficiencies
 primary_id: MESH:D007009
 alt_id: RDO:0005858
 xref: GARD:8394;   ICD9CM:272.5
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Apoa1 apolipoprotein A1 ISO RGD PMID:9931341 RGD:734583 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Il1b interleukin 1 beta ISO mRNA:increased expression:macrophage RGD PMID:17322100 RGD:1625405 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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 DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Betalipoprotein deficiency disease
ClinVar Annotator: match by term: Abetalipoproteinemia
ClinVar Annotator: match by OMIM:200100
DNA:insertion:cds:c.419-420insA (human)
DNA:mutations:cds:multiple (human)
ClinVar
OMIM
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, PMID:8533758, PMID:14741197, PMID:10946006 RGD:1581045, RGD:1581043, RGD:1581044 NCBI chr 2:243,366,181...243,407,608
Ensembl chr 2:243,366,181...243,407,608
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Acanthocytosis ClinVar PMID:1696010, PMID:2527366, PMID:8343110 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
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 2:243,366,181...243,407,608
Ensembl chr 2:243,366,181...243,407,608
JBrowse link
chylomicron retention disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitpna phosphatidylinositol transfer protein, alpha ISS OMIM:246700 MouseDO NCBI chr10:63,731,767...63,772,049
Ensembl chr10:63,731,767...63,772,049
JBrowse link
G Sar1b secretion associated, Ras related GTPase 1B ISO ClinVar Annotator: match by term: Chylomicron retention disease
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:246700
OMIM
ClinVar
PMID:10665502, PMID:12692552, PMID:17309654, PMID:17945526, PMID:19285442, PMID:24033266 NCBI chr10:37,215,989...37,245,603
Ensembl chr10:37,215,937...37,245,658
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 DNA:mutations: :
ClinVar Annotator: match by term: ABCA1 polymorphism
ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency
ClinVar Annotator: match by term: Familial high density lipoprotein deficiency disease
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:10431236, PMID:10431237, PMID:11476965, PMID:11940086, PMID:18354102, PMID:18776170, PMID:19202195, PMID:20093111, PMID:20595220, PMID:21860089, PMID:23559627, PMID:10431236 RGD:1298571 NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
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 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
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 ClinVar Annotator: match by synonym: Hypobetalipoproteinemia, normotriglyceridemic
ClinVar Annotator: match by term: Hypobetalipoproteinemia, familial, 1
ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia
ClinVar
OMIM
PMID:221546, PMID:1360085, PMID:1431583, PMID:1454832, PMID:1466657, PMID:1493642, PMID:1600334, PMID:1731805, PMID:1793440, PMID:1939657, PMID:1977310, PMID:2280177, PMID:2375782, PMID:2563166, PMID:2903181, PMID:2909827, PMID:3399894, PMID:3473077, PMID:3477815, PMID:3771801, PMID:3975124, PMID:4031057, PMID:7229035, 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:15984016, 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: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 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
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 ClinVar Annotator: match by OMIM:605019 OMIM
ClinVar
PMID:19075393, PMID:20942659, PMID:22062970, PMID:22247256 NCBI chr 5:117,698,590...117,706,729
Ensembl chr 5:117,698,764...117,705,808
JBrowse link
G Apob apolipoprotein B ISS OMIM:605019 MouseDO NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Dock7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by null ClinVar PMID:19075393, PMID:20942659, PMID:22062970, PMID:22247256 NCBI chr 5:117,595,194...117,780,844
Ensembl chr 5:117,596,136...117,780,777
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 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
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 2:243,366,181...243,407,608
Ensembl chr 2:243,366,181...243,407,608
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 ClinVar Annotator: match by OMIM:604091
ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia
ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by OMIM:604091
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 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
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 protein:decreased expression:plasma
ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia
ClinVar Annotator: match by term: Hypobetalipoproteinemia
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: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, PMID:16728468, PMID:3473077 RGD:1601203, RGD:1599164 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoc2 apolipoprotein C2 ISO protein:decreased expression:plasma RGD PMID:2242096 RGD:1601212 NCBI chr 1:80,589,023...80,593,991
Ensembl chr 1:80,589,023...80,594,136
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: Familial hypobetalipoproteinemia
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: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, PMID:16619215 RGD:1580999 NCBI chr 5:126,031,368...126,053,726
Ensembl chr 5:126,031,368...126,053,726
JBrowse link
Norum disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lcat lecithin cholesterol acyltransferase ISO ClinVar Annotator: match by term: Norum disease
ClinVar Annotator: match by term: Fish-eye disease
ClinVar Annotator: match by OMIM:245900
ClinVar Annotator: match by OMIM:136120
ClinVar
OMIM
PMID:1516702, PMID:1571050, PMID:1662503, PMID:1681161, PMID:1737840, PMID:1859405, PMID:2052566, PMID:2370048, PMID:6078131, PMID:6624548, PMID:8432868, PMID:8675648, PMID:8755645, PMID:9261271, PMID:15297675, PMID:21600519, PMID:21901787, PMID:22090275, PMID:22701329, PMID:25741868, PMID:31164121, PMID:16061733 RGD:1581778 NCBI chr19:37,913,333...37,916,799
Ensembl chr19:37,913,336...37,916,813
JBrowse link
G Slc12a4 solute carrier family 12 member 4 ISO ClinVar Annotator: match by synonym: Dyslipoproteinemic corneal dystrophy ClinVar PMID:1571050 NCBI chr19:37,917,003...37,938,952
Ensembl chr19:37,917,014...37,938,857
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 ClinVar Annotator: match by term: ABCA1 polymorphism
ClinVar Annotator: match by term: Tangier disease
ClinVar Annotator: match by OMIM:205400
CTD Direct Evidence: marker/mechanism
DNA:mutations: :
ClinVar
CTD
OMIM
PMID:10431236, PMID:10431237, PMID:10535983, PMID:10706591, PMID:10938021, PMID:11238261, PMID:11257261, PMID:11476961, PMID:11476965, PMID:11940086, PMID:12111381, PMID:12204794, PMID:12624133, PMID:12702168, 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:17710129, PMID:18199144, PMID:18354102, PMID:18523221, PMID:18776170, PMID:19133158, PMID:19202195, PMID:19596329, PMID:19743957, PMID:20011639, PMID:20093111, PMID:20418488, PMID:20427018, PMID:20595220, 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, PMID:11086027, PMID:15841208, PMID:10431236 RGD:1600951, RGD:19165130, RGD:1298571 NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency
ClinVar PMID:8282791 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        lipid metabolism disorder 899
          hypolipoproteinemia 14
            Hypoalphalipoproteinemias + 4
            Norum disease 2
            Wolman Disease with Hypolipoproteinemia and Acanthocytosis 0
            abetalipoproteinemia + 2
            hypobetalipoproteinemia + 9
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            lipid metabolism disorder 899
              Dyslipidemias 291
                hypolipoproteinemia 14
                  Hypoalphalipoproteinemias + 4
                  Norum disease 2
                  Wolman Disease with Hypolipoproteinemia and Acanthocytosis 0
                  abetalipoproteinemia + 2
                  hypobetalipoproteinemia + 9
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.