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hypolipoproteinemia - Ontology Report - Rat Genome Database

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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:A lipid metabolism disorder that is characterized by unusually low levels of fats in the blood. (DO)
Synonyms:exact_synonym: hypolipoproteinaemia;   hypolipoproteinemias;   hypoprebetalipoproteinemia
 related_synonym: Lipoprotein deficiencies;   liipoprotein deficiencies
 primary_id: MESH:D007009
 xref: GARD:8394;   ICD9CM:272.5
For additional species annotation, visit the Alliance of Genome Resources.

Please select species to view GViewer data.

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 N Abca1 ATP binding cassette subfamily A member 1 ISO RGD PMID:11086027 RGD:1600951 NCBI chrNW_004624758:6,449,583...6,590,244
Ensembl chrNW_004624758:6,449,629...6,588,664 		JBrowse link
G G ABCA1 ATP binding cassette subfamily A member 1 ISO RGD PMID:11086027 RGD:1600951 NCBI chr12:34,587,123...34,734,936
Ensembl chr12:34,587,118...34,731,642 		JBrowse link
G P 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 S Abca1 ATP binding cassette subfamily A member 1 ISO RGD PMID:11086027 RGD:1600951 NCBI chrNW_004936559:7,177,887...7,312,660
Ensembl chrNW_004936559:7,177,904...7,312,741 		JBrowse link
G D ABCA1 ATP binding cassette subfamily A member 1 ISO RGD PMID:11086027 RGD:1600951 NCBI chr11:60,761,669...60,869,753
Ensembl chr11:60,761,655...60,890,496 		JBrowse link
G B ABCA1 ATP binding cassette subfamily A member 1 ISO RGD PMID:11086027 RGD:1600951 NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188 		JBrowse link
G C Abca1 ATP binding cassette subfamily A member 1 ISO RGD PMID:11086027 RGD:1600951 NCBI chrNW_004955419:21,553,863...21,681,626
Ensembl chrNW_004955419:21,553,835...21,681,619 		JBrowse link
G R Abca1 ATP binding cassette subfamily A member 1 ISO RGD PMID:11086027 RGD:1600951 NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170 		JBrowse link
G M Abca1 ATP-binding cassette, sub-family A member 1 ISO RGD PMID:11086027 RGD:1600951 NCBI chr 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895 		JBrowse link
G H ABCA1 ATP binding cassette subfamily A member 1 IAGP RGD PMID:11086027 RGD:1600951 NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155 		JBrowse link
G N Apoa1 apolipoprotein A1 ISO RGD PMID:9931341 RGD:734583 NCBI chrNW_004624784:12,249,283...12,251,215
Ensembl chrNW_004624784:12,249,283...12,251,136 		JBrowse link
G G APOA1 apolipoprotein A1 ISO RGD PMID:9931341 RGD:734583 NCBI chr 1:108,201,967...108,203,902
Ensembl chr 1:108,201,439...108,203,609 		JBrowse link
G P APOA1 apolipoprotein A1 ISO RGD PMID:9931341 RGD:734583 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713 		JBrowse link
G S Apoa1 apolipoprotein A1 ISO RGD PMID:9931341 RGD:734583 NCBI chrNW_004936542:2,111,055...2,112,626
Ensembl chrNW_004936542:2,111,052...2,112,854 		JBrowse link
G D APOA1 apolipoprotein A1 ISO RGD PMID:9931341 RGD:734583 NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943 		JBrowse link
G B APOA1 apolipoprotein A1 ISO RGD PMID:9931341 RGD:734583 NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122 		JBrowse link
G C Apoa1 apolipoprotein A1 ISO RGD PMID:9931341 RGD:734583 NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298 		JBrowse link
G R Apoa1 apolipoprotein A1 ISO RGD PMID:9931341 RGD:734583 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G M Apoa1 apolipoprotein A-I ISO RGD PMID:9931341 RGD:734583 NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764 		JBrowse link
G H APOA1 apolipoprotein A1 IAGP RGD PMID:9931341 RGD:734583 NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G N Il1b interleukin 1 beta ISO mRNA:increased expression:macrophage RGD PMID:17322100 RGD:1625405 NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760 		JBrowse link
G G IL1B interleukin 1 beta ISO mRNA:increased expression:macrophage RGD PMID:17322100 RGD:1625405 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G S Il1b interleukin 1 beta ISO mRNA:increased expression:macrophage RGD PMID:17322100 RGD:1625405 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165 		JBrowse link
G D IL1B interleukin 1 beta ISO mRNA:increased expression:macrophage RGD PMID:17322100 RGD:1625405 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G B IL1B interleukin 1 beta ISO mRNA:increased expression:macrophage RGD PMID:17322100 RGD:1625405 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		JBrowse link
G C Il1b interleukin 1 beta ISO mRNA:increased expression:macrophage RGD PMID:17322100 RGD:1625405 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947 		JBrowse link
G R Il1b interleukin 1 beta ISO mRNA:increased expression:macrophage RGD PMID:17322100 RGD:1625405 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G M Il1b interleukin 1 beta ISO mRNA:increased expression:macrophage RGD PMID:17322100 RGD:1625405 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G H IL1B interleukin 1 beta IEP mRNA:increased expression:macrophage RGD PMID:17322100 RGD:1625405 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G P LOC110258578 interleukin-1 beta-like ISO mRNA:increased expression:macrophage RGD PMID:17322100 RGD:1625405
G G LPA lipoprotein(a) ISO CTD Direct Evidence: marker/mechanism CTD PMID:10484779 NCBI chr13:88,077,041...88,337,256 JBrowse link
G B LPA lipoprotein(a) ISO CTD Direct Evidence: marker/mechanism CTD PMID:10484779 NCBI chr 6:158,434,394...158,628,028 JBrowse link
G H LPA lipoprotein(a) EXP CTD Direct Evidence: marker/mechanism CTD PMID:10484779 NCBI chr 6:160,531,482...160,664,275
Ensembl chr 6:160,531,482...160,664,275 		JBrowse link
abetalipoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC126807124 BRD4-independent group 4 enhancer GRCh37_chr4:100484300-100485499 IAGP ClinVar Annotator: match by term: Betalipoprotein deficiency disease | ClinVar Annotator: match by term: MTTP-related condition ClinVar PMID:25741868 NCBI chr 4:99,563,143...99,564,342 JBrowse link
G N Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abetalipoproteinemia | ClinVar Annotator: match by term: Betalipoprotein deficiency disease | ClinVar Annotator: match by term: MTP DEFICIENCY | ClinVar Annotator: match by term: MTTP-related condition | ClinVar Annotator: match by term: Microsomal triglyceride transfer protein deficiency disease | ClinVar Annotator: match by term: Microsomal-triglyceride transfer protein deficiency OMIM
ClinVar		 PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chrNW_004624830:7,463,671...7,505,607
Ensembl chrNW_004624830:7,464,686...7,506,129 		JBrowse link
G G MTTP microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abetalipoproteinemia | ClinVar Annotator: match by term: Betalipoprotein deficiency disease | ClinVar Annotator: match by term: MTP DEFICIENCY | ClinVar Annotator: match by term: MTTP-related condition | ClinVar Annotator: match by term: Microsomal triglyceride transfer protein deficiency disease | ClinVar Annotator: match by term: Microsomal-triglyceride transfer protein deficiency OMIM
ClinVar		 PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chr 7:47,706,591...47,765,154
Ensembl chr 7:47,717,089...47,765,149 		JBrowse link
G P MTTP microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abetalipoproteinemia | ClinVar Annotator: match by term: Betalipoprotein deficiency disease | ClinVar Annotator: match by term: MTP DEFICIENCY | ClinVar Annotator: match by term: MTTP-related condition | ClinVar Annotator: match by term: Microsomal triglyceride transfer protein deficiency disease | ClinVar Annotator: match by term: Microsomal-triglyceride transfer protein deficiency OMIM
ClinVar		 PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chr 8:120,820,660...120,871,468
Ensembl chr 8:120,820,656...120,879,388 		JBrowse link
G S Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abetalipoproteinemia | ClinVar Annotator: match by term: Betalipoprotein deficiency disease | ClinVar Annotator: match by term: MTP DEFICIENCY | ClinVar Annotator: match by term: MTTP-related condition | ClinVar Annotator: match by term: Microsomal triglyceride transfer protein deficiency disease | ClinVar Annotator: match by term: Microsomal-triglyceride transfer protein deficiency OMIM
ClinVar		 PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chrNW_004936520:3,337,726...3,417,818
Ensembl chrNW_004936520:3,338,881...3,381,627 		JBrowse link
G D MTTP microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abetalipoproteinemia | ClinVar Annotator: match by term: Betalipoprotein deficiency disease | ClinVar Annotator: match by term: MTP DEFICIENCY | ClinVar Annotator: match by term: MTTP-related condition | ClinVar Annotator: match by term: Microsomal triglyceride transfer protein deficiency disease | ClinVar Annotator: match by term: Microsomal-triglyceride transfer protein deficiency OMIM
ClinVar		 PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chr32:21,582,368...21,626,806
Ensembl chr32:21,570,801...21,628,624 		JBrowse link
G B MTTP microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abetalipoproteinemia | ClinVar Annotator: match by term: Betalipoprotein deficiency disease | ClinVar Annotator: match by term: MTP DEFICIENCY | ClinVar Annotator: match by term: MTTP-related condition | ClinVar Annotator: match by term: Microsomal triglyceride transfer protein deficiency disease | ClinVar Annotator: match by term: Microsomal-triglyceride transfer protein deficiency OMIM
ClinVar		 PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chr 4:91,987,756...92,047,127
Ensembl chr 4:102,648,793...102,708,107 		JBrowse link
G C Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abetalipoproteinemia | ClinVar Annotator: match by term: Betalipoprotein deficiency disease | ClinVar Annotator: match by term: MTP DEFICIENCY | ClinVar Annotator: match by term: MTTP-related condition | ClinVar Annotator: match by term: Microsomal triglyceride transfer protein deficiency disease | ClinVar Annotator: match by term: Microsomal-triglyceride transfer protein deficiency OMIM
ClinVar		 PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chrNW_004955496:7,963,323...8,022,393
Ensembl chrNW_004955496:7,963,262...8,009,838 		JBrowse link
G R Mttp microsomal triglyceride transfer protein ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Abetalipoproteinemia | ClinVar Annotator: match by term: Betalipoprotein deficiency disease | ClinVar Annotator: match by term: MTP DEFICIENCY | ClinVar Annotator: match by term: MTTP-related condition | ClinVar Annotator: match by term: Microsomal triglyceride transfer protein deficiency disease | ClinVar Annotator: match by term: Microsomal-triglyceride transfer protein deficiency
CTD Direct Evidence: marker/mechanism
DNA:insertion:cds:c.419-420insA (human)
DNA:mutations:cds:multiple (human) 		ClinVar
CTD
OMIM
RGD		 PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... RGD:1581045, RGD:1581043, RGD:1581044 NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239 		JBrowse link
G M Mttp microsomal triglyceride transfer protein ISO DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Abetalipoproteinemia | ClinVar Annotator: match by term: Betalipoprotein deficiency disease | ClinVar Annotator: match by term: MTP DEFICIENCY | ClinVar Annotator: match by term: MTTP-related condition | ClinVar Annotator: match by term: Microsomal triglyceride transfer protein deficiency disease | ClinVar Annotator: match by term: Microsomal-triglyceride transfer protein deficiency
CTD Direct Evidence: marker/mechanism
DNA:insertion:cds:c.419-420insA (human)
DNA:missense mutations:cds:multiple (human) 		ClinVar
CTD
OMIM
RGD		 PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... RGD:1581044, RGD:1581043, RGD:1581045 NCBI chr 3:137,795,616...137,849,179
Ensembl chr 3:137,795,615...137,850,729 		JBrowse link
G H MTTP microsomal triglyceride transfer protein IAGP
EXP 		DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: MTP DEFICIENCY
ClinVar Annotator: match by term: Betalipoprotein deficiency disease | ClinVar Annotator: match by term: MTTP-related condition
ClinVar Annotator: match by term: Abetalipoproteinemia | ClinVar Annotator: match by term: Betalipoprotein deficiency disease | ClinVar Annotator: match by term: MTTP-related condition | ClinVar Annotator: match by term: Microsomal triglyceride transfer protein deficiency disease
ClinVar Annotator: match by term: Betalipoprotein deficiency disease | ClinVar Annotator: match by term: MTTP-related condition | ClinVar Annotator: match by term: Microsomal-triglyceride transfer protein deficiency
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:multiple (human)
DNA:insertion:cds:c.419-420insA (human) 		ClinVar
CTD
OMIM
RGD		 PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... RGD:1581045, RGD:1581044, RGD:1581043 NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,564,081...99,623,997 		JBrowse link
G N Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Acanthocytosis ClinVar PMID:1696010 PMID:2527366 PMID:8343110 PMID:28492532 NCBI chrNW_004624795:739,821...752,773
Ensembl chrNW_004624795:743,646...752,103 		JBrowse link
G 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 PMID:28492532 NCBI chr16:62,126,370...62,146,192
Ensembl chr16:62,131,709...62,146,182 		JBrowse link
G P SLC4A1 solute carrier family 4 member 1 ISO ClinVar Annotator: match by term: Acanthocytosis ClinVar PMID:1696010 PMID:2527366 PMID:8343110 PMID:28492532 NCBI chr12:18,957,813...18,975,266
Ensembl chr12:18,957,807...18,974,208 		JBrowse link
G S Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Acanthocytosis ClinVar PMID:1696010 PMID:2527366 PMID:8343110 PMID:28492532 NCBI chrNW_004936541:718,577...727,420
Ensembl chrNW_004936541:718,577...729,876 		JBrowse link
G D SLC4A1 solute carrier family 4 member 1 ISO ClinVar Annotator: match by term: Acanthocytosis ClinVar PMID:1696010 PMID:2527366 PMID:8343110 PMID:28492532 NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915 		JBrowse link
G B SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Acanthocytosis ClinVar PMID:1696010 PMID:2527366 PMID:8343110 PMID:28492532 NCBI chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312 		JBrowse link
G C Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Acanthocytosis ClinVar PMID:1696010 PMID:2527366 PMID:8343110 PMID:28492532 NCBI chrNW_004955451:17,318,600...17,330,943
Ensembl chrNW_004955451:17,315,024...17,328,103 		JBrowse link
G R Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Acanthocytosis ClinVar PMID:1696010 PMID:2527366 PMID:8343110 PMID:28492532 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
G M Slc4a1 solute carrier family 4 (anion exchanger), member 1 ISO ClinVar Annotator: match by term: Acanthocytosis ClinVar PMID:1696010 PMID:2527366 PMID:8343110 PMID:28492532 NCBI chr11:102,239,646...102,256,107
Ensembl chr11:102,239,650...102,257,029 		JBrowse link
G H SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP ClinVar Annotator: match by term: Acanthocytosis ClinVar PMID:1696010 PMID:2527366 PMID:8343110 PMID:28492532 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
Abetalipoproteinemia Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC126807124 BRD4-independent group 4 enhancer GRCh37_chr4:100484300-100485499 IAGP ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy ClinVar PMID:25741868 NCBI chr 4:99,563,143...99,564,342 JBrowse link
G N Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy ClinVar PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chrNW_004624830:7,463,671...7,505,607
Ensembl chrNW_004624830:7,464,686...7,506,129 		JBrowse link
G G MTTP microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy ClinVar PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chr 7:47,706,591...47,765,154
Ensembl chr 7:47,717,089...47,765,149 		JBrowse link
G P MTTP microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy ClinVar PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chr 8:120,820,660...120,871,468
Ensembl chr 8:120,820,656...120,879,388 		JBrowse link
G S Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy ClinVar PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chrNW_004936520:3,337,726...3,417,818
Ensembl chrNW_004936520:3,338,881...3,381,627 		JBrowse link
G D MTTP microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy ClinVar PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chr32:21,582,368...21,626,806
Ensembl chr32:21,570,801...21,628,624 		JBrowse link
G B MTTP microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy ClinVar PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chr 4:91,987,756...92,047,127
Ensembl chr 4:102,648,793...102,708,107 		JBrowse link
G C Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy ClinVar PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chrNW_004955496:7,963,323...8,022,393
Ensembl chrNW_004955496:7,963,262...8,009,838 		JBrowse link
G R Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy ClinVar PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239 		JBrowse link
G M Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy ClinVar PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chr 3:137,795,616...137,849,179
Ensembl chr 3:137,795,615...137,850,729 		JBrowse link
G H MTTP microsomal triglyceride transfer protein IAGP ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy ClinVar PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,564,081...99,623,997 		JBrowse link
chylomicron retention disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Dcdc2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Chylomicron retention disease ClinVar PMID:25741868 PMID:27469900 NCBI chrNW_004624756:2,644,287...2,813,908
Ensembl chrNW_004624756:2,644,248...2,809,787 		JBrowse link
G G DCDC2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Chylomicron retention disease ClinVar PMID:25741868 PMID:27469900 NCBI chr17:47,880,282...48,065,686
Ensembl chr17:47,881,346...48,066,436 		JBrowse link
G P DCDC2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Chylomicron retention disease ClinVar PMID:25741868 PMID:27469900 NCBI chr 7:19,044,229...19,219,055
Ensembl chr 7:19,048,088...19,219,075 		JBrowse link
G S Dcdc2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Chylomicron retention disease ClinVar PMID:25741868 PMID:27469900 NCBI chrNW_004936671:605,114...736,217
Ensembl chrNW_004936671:605,084...736,674 		JBrowse link
G D DCDC2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Chylomicron retention disease ClinVar PMID:25741868 PMID:27469900 NCBI chr35:22,264,484...22,422,769
Ensembl chr35:22,266,282...22,422,776 		JBrowse link
G B DCDC2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Chylomicron retention disease ClinVar PMID:25741868 PMID:27469900 NCBI chr 6:24,001,971...24,186,530
Ensembl chr 6:24,337,188...24,520,082 		JBrowse link
G C Dcdc2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Chylomicron retention disease ClinVar PMID:25741868 PMID:27469900 NCBI chrNW_004955483:2,608,063...2,783,872
Ensembl chrNW_004955483:2,607,925...2,778,799 		JBrowse link
G R Dcdc2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Chylomicron retention disease ClinVar PMID:25741868 PMID:27469900 NCBI chr17:39,845,952...40,031,781
Ensembl chr17:39,845,952...40,030,743 		JBrowse link
G H DCDC2 doublecortin domain containing 2 IAGP ClinVar Annotator: match by term: Chylomicron retention disease ClinVar PMID:25741868 PMID:27469900 NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059 		JBrowse link
G M Dcdc2a doublecortin domain containing 2a ISO ClinVar Annotator: match by term: Chylomicron retention disease ClinVar PMID:25741868 PMID:27469900 NCBI chr13:25,239,126...25,394,689
Ensembl chr13:25,239,987...25,394,689 		JBrowse link
G N Pitpna phosphatidylinositol transfer protein alpha ISO OMIM:246700 MouseDO NCBI chrNW_004624786:4,238,500...4,274,890
Ensembl chrNW_004624786:4,242,046...4,274,625 		JBrowse link
G G PITPNA phosphatidylinositol transfer protein alpha ISO OMIM:246700 MouseDO NCBI chr16:1,193,326...1,235,677 JBrowse link
G P PITPNA phosphatidylinositol transfer protein alpha ISO OMIM:246700 MouseDO NCBI chr12:47,739,631...47,785,387
Ensembl chr12:47,739,633...47,785,375 		JBrowse link
G S Pitpna phosphatidylinositol transfer protein alpha ISO OMIM:246700 MouseDO NCBI chrNW_004936538:7,663,457...7,704,484
Ensembl chrNW_004936538:7,667,162...7,704,315 		JBrowse link
G D PITPNA phosphatidylinositol transfer protein alpha ISO OMIM:246700 MouseDO NCBI chr 9:45,681,533...45,724,915
Ensembl chr 9:45,683,853...45,724,820 		JBrowse link
G B PITPNA phosphatidylinositol transfer protein alpha ISO OMIM:246700 MouseDO NCBI chr17:1,500,900...1,545,643
Ensembl chr17:1,404,137...1,440,224 		JBrowse link
G C Pitpna phosphatidylinositol transfer protein alpha ISO OMIM:246700 MouseDO NCBI chrNW_004955481:1,611,579...1,649,481
Ensembl chrNW_004955481:1,611,830...1,645,753 		JBrowse link
G R Pitpna phosphatidylinositol transfer protein, alpha ISS OMIM:246700 MouseDO NCBI chr10:60,430,712...60,473,564
Ensembl chr10:60,430,748...60,471,342 		JBrowse link
G M Pitpna phosphatidylinositol transfer protein, alpha IAGP OMIM:246700 MouseDO NCBI chr11:75,478,889...75,519,630
Ensembl chr11:75,478,923...75,519,630 		JBrowse link
G H PITPNA phosphatidylinositol transfer protein alpha ISS OMIM:246700 MouseDO NCBI chr17:1,517,718...1,562,792
Ensembl chr17:1,517,718...1,562,792 		JBrowse link
G N Sar1b secretion associated Ras related GTPase 1B ISO ClinVar Annotator: match by term: Chylomicron retention disease | ClinVar Annotator: match by term: Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells | ClinVar Annotator: match by term: SAR1B-related condition OMIM
ClinVar		 PMID:10665502 PMID:12692552 PMID:17309654 PMID:17945526 PMID:19285442 More... NCBI chrNW_004624733:37,704,577...37,733,773
Ensembl chrNW_004624733:37,704,590...37,733,933 		JBrowse link
G G SAR1B secretion associated Ras related GTPase 1B ISO ClinVar Annotator: match by term: Chylomicron retention disease | ClinVar Annotator: match by term: Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells | ClinVar Annotator: match by term: SAR1B-related condition OMIM
ClinVar		 PMID:10665502 PMID:12692552 PMID:17309654 PMID:17945526 PMID:19285442 More... NCBI chr23:37,409,666...37,433,462
Ensembl chr23:37,406,770...37,444,447 		JBrowse link
G P SAR1B secretion associated Ras related GTPase 1B ISO ClinVar Annotator: match by term: Chylomicron retention disease | ClinVar Annotator: match by term: Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells | ClinVar Annotator: match by term: SAR1B-related condition OMIM
ClinVar		 PMID:10665502 PMID:12692552 PMID:17309654 PMID:17945526 PMID:19285442 More... NCBI chr 2:136,848,843...136,874,248
Ensembl chr 2:136,843,955...136,874,213 		JBrowse link
G S Sar1b secretion associated Ras related GTPase 1B ISO ClinVar Annotator: match by term: Chylomicron retention disease | ClinVar Annotator: match by term: Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells | ClinVar Annotator: match by term: SAR1B-related condition OMIM
ClinVar		 PMID:10665502 PMID:12692552 PMID:17309654 PMID:17945526 PMID:19285442 More... NCBI chrNW_004936647:697,930...723,577 JBrowse link
G D SAR1B secretion associated Ras related GTPase 1B ISO ClinVar Annotator: match by term: Chylomicron retention disease | ClinVar Annotator: match by term: Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells | ClinVar Annotator: match by term: SAR1B-related condition OMIM
ClinVar		 PMID:10665502 PMID:12692552 PMID:17309654 PMID:17945526 PMID:19285442 More... NCBI chr11:22,713,459...22,743,190
Ensembl chr11:22,717,942...22,743,124 		JBrowse link
G B SAR1B secretion associated Ras related GTPase 1B ISO ClinVar Annotator: match by term: Chylomicron retention disease | ClinVar Annotator: match by term: Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells | ClinVar Annotator: match by term: SAR1B-related condition OMIM
ClinVar		 PMID:10665502 PMID:12692552 PMID:17309654 PMID:17945526 PMID:19285442 More... NCBI chr 5:130,008,941...130,035,785
Ensembl chr 5:136,157,408...136,181,967 		JBrowse link
G C Sar1b secretion associated Ras related GTPase 1B ISO ClinVar Annotator: match by term: Chylomicron retention disease | ClinVar Annotator: match by term: Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells | ClinVar Annotator: match by term: SAR1B-related condition OMIM
ClinVar		 PMID:10665502 PMID:12692552 PMID:17309654 PMID:17945526 PMID:19285442 More... NCBI chrNW_004955408:5,737,197...5,761,228 JBrowse link
G R Sar1b secretion associated, Ras related GTPase 1B ISO
ISS 		OMIM:246700
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chylomicron retention disease | ClinVar Annotator: match by term: Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells | ClinVar Annotator: match by term: SAR1B-related condition 		OMIM
MouseDO
CTD
ClinVar		 PMID:10665502 PMID:12692552 PMID:17309654 PMID:17945526 PMID:19285442 More... NCBI chr10:36,024,415...36,054,069
Ensembl chr10:36,024,382...36,054,066 		JBrowse link
G M Sar1b secretion associated Ras related GTPase 1B ISO
IAGP 		CTD Direct Evidence: marker/mechanism
OMIM:246700
ClinVar Annotator: match by term: Chylomicron retention disease | ClinVar Annotator: match by term: Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells | ClinVar Annotator: match by term: SAR1B-related condition 		OMIM
CTD
MouseDO
ClinVar		 PMID:10665502 PMID:12692552 PMID:17309654 PMID:17945526 PMID:19285442 More... NCBI chr11:51,654,490...51,682,780
Ensembl chr11:51,654,514...51,682,752 		JBrowse link
G H SAR1B secretion associated Ras related GTPase 1B IAGP
ISS
EXP 		ClinVar Annotator: match by term: Chylomicron retention disease
ClinVar Annotator: match by term: SAR1B-related condition
ClinVar Annotator: match by term: Chylomicron retention disease | ClinVar Annotator: match by term: SAR1B-related condition
ClinVar Annotator: match by term: Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells
OMIM:246700
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:10665502 PMID:12692552 PMID:17309654 PMID:17945526 PMID:19285442 More... NCBI chr 5:134,601,149...134,632,828
Ensembl chr 5:134,601,149...134,649,271 		JBrowse link
familial hypobetalipoproteinemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Apob apolipoprotein B ISO ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: APOB-related disorder | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic
ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic 		OMIM
ClinVar		 PMID:174884 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1466657 More... NCBI chrNW_004624738:3,579,747...3,622,508
Ensembl chrNW_004624738:3,580,033...3,620,192 		JBrowse link
G G APOB apolipoprotein B ISO ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: APOB-related disorder | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic
ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic 		OMIM
ClinVar		 PMID:174884 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1466657 More... NCBI chr14:86,624,209...86,669,175
Ensembl chr14:86,624,332...86,668,704 		JBrowse link
G P APOB apolipoprotein B ISO ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: APOB-related disorder | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic
ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic 		OMIM
ClinVar		 PMID:174884 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1466657 More... NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200 		JBrowse link
G S Apob apolipoprotein B ISO ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: APOB-related disorder | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic
ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic 		OMIM
ClinVar		 PMID:174884 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1466657 More... NCBI chrNW_004936493:10,509,118...10,549,144
Ensembl chrNW_004936493:10,509,118...10,549,144 		JBrowse link
G D APOB apolipoprotein B ISO ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: APOB-related disorder | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic
ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic 		OMIM
ClinVar		 PMID:174884 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1466657 More... NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135 		JBrowse link
G B APOB apolipoprotein B ISO ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: APOB-related disorder | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic
ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic 		OMIM
ClinVar		 PMID:174884 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1466657 More... NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129 		JBrowse link
G C Apob apolipoprotein B ISO ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: APOB-related disorder | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic
ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic 		OMIM
ClinVar		 PMID:174884 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1466657 More... NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424 		JBrowse link
G R Apob apolipoprotein B ISO ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: APOB-related disorder | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic
ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:174884 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1466657 More... NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G M Apob apolipoprotein B ISO ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: APOB-related disorder | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic
ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:174884 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1466657 More... NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835 		JBrowse link
G H APOB apolipoprotein B IAGP
EXP 		ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1
ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: APOB-related disorder | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1
ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: APOB-related disorder | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic
ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1
ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:174884 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1466657 More... NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G H APOB3'MAR APOB 3' scaffold/matrix attachment region IAGP ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1
ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 		ClinVar PMID:19602640 PMID:22923420 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:21,000,401...21,001,841 JBrowse link
G H LOC106560211 APOB 5' regulatory region IAGP ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1
ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 		ClinVar PMID:12655413 PMID:16199547 PMID:20032471 PMID:24498611 PMID:24503134 More... NCBI chr 2:21,041,088...21,049,341 JBrowse link
familial hypobetalipoproteinemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Angptl3 angiopoietin like 3 ISO ClinVar Annotator: match by term: ANGPTL3-related condition | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 OMIM
ClinVar		 PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 More... NCBI chrNW_004624742:31,261,719...31,269,877
Ensembl chrNW_004624742:31,260,611...31,270,122 		JBrowse link
G G ANGPTL3 angiopoietin like 3 ISO ClinVar Annotator: match by term: ANGPTL3-related condition | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 OMIM
ClinVar		 PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 More... NCBI chr20:70,452,771...70,461,590
Ensembl chr20:70,449,227...70,460,469 		JBrowse link
G P ANGPTL3 angiopoietin like 3 ISO ClinVar Annotator: match by term: ANGPTL3-related condition | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 OMIM
ClinVar		 PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 More... NCBI chr 6:149,836,417...149,845,854
Ensembl chr 6:149,832,542...149,845,831 		JBrowse link
G S Angptl3 angiopoietin like 3 ISO ClinVar Annotator: match by term: ANGPTL3-related condition | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 OMIM
ClinVar		 PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 More... NCBI chrNW_004936692:286,432...295,021
Ensembl chrNW_004936692:286,717...294,822 		JBrowse link
G D ANGPTL3 angiopoietin like 3 ISO ClinVar Annotator: match by term: ANGPTL3-related condition | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 OMIM
ClinVar		 PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 More... NCBI chr 5:47,524,390...47,532,931
Ensembl chr 5:47,525,365...47,532,899 		JBrowse link
G B ANGPTL3 angiopoietin like 3 ISO ClinVar Annotator: match by term: ANGPTL3-related condition | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 OMIM
ClinVar		 PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 More... NCBI chr 1:61,855,870...61,863,476
Ensembl chr 1:63,670,516...63,679,194 		JBrowse link
G C Angptl3 angiopoietin like 3 ISO ClinVar Annotator: match by term: ANGPTL3-related condition | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 OMIM
ClinVar		 PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 More... NCBI chrNW_004955423:27,113,378...27,121,339
Ensembl chrNW_004955423:27,109,962...27,121,276 		JBrowse link
G R Angptl3 angiopoietin-like 3 ISO ClinVar Annotator: match by term: ANGPTL3-related condition | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 More... NCBI chr 5:113,703,007...113,710,044
Ensembl chr 5:113,703,012...113,709,957 		JBrowse link
G M Angptl3 angiopoietin-like 3 ISO ClinVar Annotator: match by term: ANGPTL3-related condition | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 More... NCBI chr 4:98,919,191...98,926,429
Ensembl chr 4:98,919,191...98,934,348 		JBrowse link
G H ANGPTL3 angiopoietin like 3 IAGP
EXP 		ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2
ClinVar Annotator: match by term: ANGPTL3-related condition | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 More... NCBI chr 1:62,597,520...62,606,313
Ensembl chr 1:62,597,520...62,606,313 		JBrowse link
G N Apob apolipoprotein B ISO OMIM:605019 MouseDO NCBI chrNW_004624738:3,579,747...3,622,508
Ensembl chrNW_004624738:3,580,033...3,620,192 		JBrowse link
G G APOB apolipoprotein B ISO OMIM:605019 MouseDO NCBI chr14:86,624,209...86,669,175
Ensembl chr14:86,624,332...86,668,704 		JBrowse link
G P APOB apolipoprotein B ISO OMIM:605019 MouseDO NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200 		JBrowse link
G S Apob apolipoprotein B ISO OMIM:605019 MouseDO NCBI chrNW_004936493:10,509,118...10,549,144
Ensembl chrNW_004936493:10,509,118...10,549,144 		JBrowse link
G D APOB apolipoprotein B ISO OMIM:605019 MouseDO NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135 		JBrowse link
G B APOB apolipoprotein B ISO OMIM:605019 MouseDO NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129 		JBrowse link
G C Apob apolipoprotein B ISO OMIM:605019 MouseDO NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424 		JBrowse link
G R Apob apolipoprotein B ISS OMIM:605019 MouseDO NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G M Apob apolipoprotein B IAGP OMIM:605019 MouseDO NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835 		JBrowse link
G H APOB apolipoprotein B ISS OMIM:605019 MouseDO NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G N Dock7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by term: ANGPTL3-related condition | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 ClinVar PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 More... NCBI chrNW_004624742:31,189,890...31,390,284
Ensembl chrNW_004624742:31,189,852...31,390,478 		JBrowse link
G G DOCK7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by term: ANGPTL3-related condition | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 ClinVar PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 More... NCBI chr20:70,371,775...70,599,311
Ensembl chr20:70,372,534...70,598,614 		JBrowse link
G P DOCK7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by term: ANGPTL3-related condition | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 ClinVar PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 More... NCBI chr 6:149,745,375...149,971,853
Ensembl chr 6:149,748,036...149,972,168 		JBrowse link
G S Dock7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by term: ANGPTL3-related condition | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 ClinVar PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 More... NCBI chrNW_004936692:161,979...354,028
Ensembl chrNW_004936692:162,390...353,721 		JBrowse link
G D DOCK7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by term: ANGPTL3-related condition | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 ClinVar PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 More... NCBI chr 5:47,435,209...47,653,312
Ensembl chr 5:47,462,224...47,653,163 		JBrowse link
G B DOCK7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by term: ANGPTL3-related condition | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 ClinVar PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 More... NCBI chr 1:61,713,217...61,946,371
Ensembl chr 1:63,529,227...63,740,970 		JBrowse link
G C Dock7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by term: ANGPTL3-related condition | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 ClinVar PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 More... NCBI chrNW_004955423:27,043,621...27,233,710
Ensembl chrNW_004955423:27,044,341...27,233,710 		JBrowse link
G R Dock7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by term: ANGPTL3-related condition | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 ClinVar PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 More... NCBI chr 5:113,599,371...113,782,871
Ensembl chr 5:113,600,198...113,782,813 		JBrowse link
G M Dock7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by term: ANGPTL3-related condition | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 ClinVar PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 More... NCBI chr 4:98,824,669...99,019,190
Ensembl chr 4:98,824,908...99,009,152 		JBrowse link
G H DOCK7 dedicator of cytokinesis 7 IAGP ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2
ClinVar Annotator: match by term: ANGPTL3-related condition | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 		ClinVar PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 More... NCBI chr 1:62,454,726...62,688,386
Ensembl chr 1:62,454,298...62,688,386 		JBrowse link
Familial Hypobetalipoproteinemia, Apolipoprotein B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:2567736 PMID:2843815 PMID:3473077 NCBI chrNW_004624738:3,579,747...3,622,508
Ensembl chrNW_004624738:3,580,033...3,620,192 		JBrowse link
G G APOB apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:2567736 PMID:2843815 PMID:3473077 NCBI chr14:86,624,209...86,669,175
Ensembl chr14:86,624,332...86,668,704 		JBrowse link
G P 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 S Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:2567736 PMID:2843815 PMID:3473077 NCBI chrNW_004936493:10,509,118...10,549,144
Ensembl chrNW_004936493:10,509,118...10,549,144 		JBrowse link
G D APOB apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:2567736 PMID:2843815 PMID:3473077 NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135 		JBrowse link
G B APOB apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:2567736 PMID:2843815 PMID:3473077 NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129 		JBrowse link
G C Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:2567736 PMID:2843815 PMID:3473077 NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424 		JBrowse link
G R Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:2567736 PMID:2843815 PMID:3473077 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G M Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:2567736 PMID:2843815 PMID:3473077 NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835 		JBrowse link
G H APOB apolipoprotein B EXP CTD Direct Evidence: marker/mechanism CTD PMID:2567736 PMID:2843815 PMID:3473077 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G H LOC126807124 BRD4-independent group 4 enhancer GRCh37_chr4:100484300-100485499 IAGP ClinVar Annotator: match by term: Apolipoprotein B deficiency ClinVar PMID:25741868 NCBI chr 4:99,563,143...99,564,342 JBrowse link
G N Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Apolipoprotein B deficiency ClinVar PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chrNW_004624830:7,463,671...7,505,607
Ensembl chrNW_004624830:7,464,686...7,506,129 		JBrowse link
G G MTTP microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Apolipoprotein B deficiency ClinVar PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chr 7:47,706,591...47,765,154
Ensembl chr 7:47,717,089...47,765,149 		JBrowse link
G P MTTP microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Apolipoprotein B deficiency ClinVar PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chr 8:120,820,660...120,871,468
Ensembl chr 8:120,820,656...120,879,388 		JBrowse link
G S Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Apolipoprotein B deficiency ClinVar PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chrNW_004936520:3,337,726...3,417,818
Ensembl chrNW_004936520:3,338,881...3,381,627 		JBrowse link
G D MTTP microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Apolipoprotein B deficiency ClinVar PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chr32:21,582,368...21,626,806
Ensembl chr32:21,570,801...21,628,624 		JBrowse link
G B MTTP microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Apolipoprotein B deficiency ClinVar PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chr 4:91,987,756...92,047,127
Ensembl chr 4:102,648,793...102,708,107 		JBrowse link
G C Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Apolipoprotein B deficiency ClinVar PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chrNW_004955496:7,963,323...8,022,393
Ensembl chrNW_004955496:7,963,262...8,009,838 		JBrowse link
G R Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Apolipoprotein B deficiency ClinVar PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239 		JBrowse link
G M Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Apolipoprotein B deficiency ClinVar PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chr 3:137,795,616...137,849,179
Ensembl chr 3:137,795,615...137,850,729 		JBrowse link
G H MTTP microsomal triglyceride transfer protein IAGP ClinVar Annotator: match by term: Apolipoprotein B deficiency ClinVar PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,564,081...99,623,997 		JBrowse link
Hypoalphalipoproteinemias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Abca1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease
ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease 		ClinVar PMID:7945562 PMID:10431237 PMID:10706591 PMID:10938021 PMID:11238261 More... NCBI chrNW_004624758:6,449,583...6,590,244
Ensembl chrNW_004624758:6,449,629...6,588,664 		JBrowse link
G G ABCA1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease
ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease 		ClinVar PMID:7945562 PMID:10431237 PMID:10706591 PMID:10938021 PMID:11238261 More... NCBI chr12:34,587,123...34,734,936
Ensembl chr12:34,587,118...34,731,642 		JBrowse link
G P ABCA1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease
ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease 		ClinVar PMID:7945562 PMID:10431237 PMID:10706591 PMID:10938021 PMID:11238261 More... NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492 		JBrowse link
G S Abca1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease
ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease 		ClinVar PMID:7945562 PMID:10431237 PMID:10706591 PMID:10938021 PMID:11238261 More... NCBI chrNW_004936559:7,177,887...7,312,660
Ensembl chrNW_004936559:7,177,904...7,312,741 		JBrowse link
G D ABCA1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease
ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease 		ClinVar PMID:7945562 PMID:10431237 PMID:10706591 PMID:10938021 PMID:11238261 More... NCBI chr11:60,761,669...60,869,753
Ensembl chr11:60,761,655...60,890,496 		JBrowse link
G B ABCA1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease
ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease 		ClinVar PMID:7945562 PMID:10431237 PMID:10706591 PMID:10938021 PMID:11238261 More... NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188 		JBrowse link
G C Abca1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease
ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease 		ClinVar PMID:7945562 PMID:10431237 PMID:10706591 PMID:10938021 PMID:11238261 More... NCBI chrNW_004955419:21,553,863...21,681,626
Ensembl chrNW_004955419:21,553,835...21,681,619 		JBrowse link
G R 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
ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease 		CTD
ClinVar		 PMID:7945562 PMID:10431237 PMID:10706591 PMID:10938021 PMID:11238261 More... NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170 		JBrowse link
G M Abca1 ATP-binding cassette, sub-family 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
ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease 		CTD
ClinVar		 PMID:7945562 PMID:10431237 PMID:10706591 PMID:10938021 PMID:11238261 More... NCBI chr 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895 		JBrowse link
G H ABCA1 ATP binding cassette subfamily A member 1 EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease
ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia 		CTD
ClinVar		 PMID:7945562 PMID:10431237 PMID:10706591 PMID:10938021 PMID:11238261 More... NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155 		JBrowse link
G N Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY ClinVar PMID:1901417 PMID:2108924 PMID:2123470 PMID:2512329 PMID:3141894 More... NCBI chrNW_004624784:12,249,283...12,251,215
Ensembl chrNW_004624784:12,249,283...12,251,136 		JBrowse link
G G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY ClinVar PMID:1901417 PMID:2108924 PMID:2123470 PMID:2512329 PMID:3141894 More... NCBI chr 1:108,201,967...108,203,902
Ensembl chr 1:108,201,439...108,203,609 		JBrowse link
G P APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY ClinVar PMID:1901417 PMID:2108924 PMID:2123470 PMID:2512329 PMID:3141894 More... NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713 		JBrowse link
G S Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY ClinVar PMID:1901417 PMID:2108924 PMID:2123470 PMID:2512329 PMID:3141894 More... NCBI chrNW_004936542:2,111,055...2,112,626
Ensembl chrNW_004936542:2,111,052...2,112,854 		JBrowse link
G D APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY ClinVar PMID:1901417 PMID:2108924 PMID:2123470 PMID:2512329 PMID:3141894 More... NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943 		JBrowse link
G B APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY ClinVar PMID:1901417 PMID:2108924 PMID:2123470 PMID:2512329 PMID:3141894 More... NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122 		JBrowse link
G C Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY ClinVar PMID:1901417 PMID:2108924 PMID:2123470 PMID:2512329 PMID:3141894 More... NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298 		JBrowse link
G R Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY ClinVar PMID:1901417 PMID:2108924 PMID:2123470 PMID:2512329 PMID:3141894 More... NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G M Apoa1 apolipoprotein A-I ISO ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY ClinVar PMID:1901417 PMID:2108924 PMID:2123470 PMID:2512329 PMID:3141894 More... NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764 		JBrowse link
G H APOA1 apolipoprotein A1 IAGP ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY
ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease 		ClinVar PMID:1901417 PMID:2108924 PMID:2123470 PMID:2512329 PMID:3141894 More... NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G H APOA1-AS APOA1 antisense RNA IAGP ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY ClinVar PMID:1901417 PMID:2108924 PMID:2123470 PMID:2512329 PMID:3142462 More... NCBI chr11:116,836,117...116,855,729
Ensembl chr11:116,836,117...116,856,210 		JBrowse link
G B LOC100972546 protein NipSnap homolog 3B ISO ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease ClinVar PMID:16429166 PMID:23139370 PMID:25215231 PMID:25741868 PMID:28492532 NCBI chr 9:75,931,560...75,941,825 JBrowse link
G G LOC103219087 protein NipSnap homolog 3B ISO ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease ClinVar PMID:16429166 PMID:23139370 PMID:25215231 PMID:25741868 PMID:28492532 NCBI chr12:34,738,132...34,753,336 JBrowse link
G H NIPSNAP3B nipsnap homolog 3B IAGP ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease ClinVar PMID:16429166 PMID:23139370 PMID:25215231 PMID:25741868 PMID:28492532 NCBI chr 9:104,764,129...104,790,899
Ensembl chr 9:104,764,129...104,777,764 		JBrowse link
hypobetalipoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Apob apolipoprotein B susceptibility ISO ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: Hypobetalipoproteinemia RGD
ClinVar		 PMID:174884 PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 More... RGD:1599164 NCBI chrNW_004624738:3,579,747...3,622,508
Ensembl chrNW_004624738:3,580,033...3,620,192 		JBrowse link
G G APOB apolipoprotein B susceptibility ISO ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: Hypobetalipoproteinemia RGD
ClinVar		 PMID:174884 PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 More... RGD:1599164 NCBI chr14:86,624,209...86,669,175
Ensembl chr14:86,624,332...86,668,704 		JBrowse link
G P APOB apolipoprotein B susceptibility ISO ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: Hypobetalipoproteinemia RGD
ClinVar		 PMID:174884 PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 More... RGD:1599164 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200 		JBrowse link
G S Apob apolipoprotein B susceptibility ISO ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: Hypobetalipoproteinemia RGD
ClinVar		 PMID:174884 PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 More... RGD:1599164 NCBI chrNW_004936493:10,509,118...10,549,144
Ensembl chrNW_004936493:10,509,118...10,549,144 		JBrowse link
G D APOB apolipoprotein B susceptibility ISO ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: Hypobetalipoproteinemia RGD
ClinVar		 PMID:174884 PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 More... RGD:1599164 NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135 		JBrowse link
G B APOB apolipoprotein B susceptibility ISO ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: Hypobetalipoproteinemia RGD
ClinVar		 PMID:174884 PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 More... RGD:1599164 NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129 		JBrowse link
G C Apob apolipoprotein B susceptibility ISO ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: Hypobetalipoproteinemia RGD
ClinVar		 PMID:174884 PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 More... RGD:1599164 NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424 		JBrowse link
G R Apob apolipoprotein B susceptibility ISO protein:decreased expression:plasma
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: Hypobetalipoproteinemia 		ClinVar
RGD		 PMID:174884 PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 More... RGD:1601203, RGD:1599164 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G M Apob apolipoprotein B susceptibility ISO protein:decreased expression:plasma
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: Hypobetalipoproteinemia 		ClinVar
RGD		 PMID:174884 PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 More... RGD:1601203, RGD:1599164 NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835 		JBrowse link
G H APOB apolipoprotein B susceptibility IEP
IAGP 		protein:decreased expression:plasma
ClinVar Annotator: match by term: Hypobetalipoproteinemia
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia 		ClinVar
RGD		 PMID:174884 PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 More... RGD:1601203, RGD:1599164 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G H APOB3'MAR APOB 3' scaffold/matrix attachment region IAGP ClinVar Annotator: match by term: Familial hypobetalipoproteinemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:21,000,401...21,001,841 JBrowse link
G N Apoc2 apolipoprotein C2 ISO protein:decreased expression:plasma RGD PMID:2242096 RGD:1601212 NCBI chrNW_004624907:1,765,467...1,769,786
Ensembl chrNW_004624907:1,765,481...1,769,781 		JBrowse link
G G APOC2 apolipoprotein C2 ISO protein:decreased expression:plasma RGD PMID:2242096 RGD:1601212 NCBI chr 6:38,406,829...38,411,239
Ensembl chr 6:38,409,641...38,410,927 		JBrowse link
G P 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 S Apoc2 apolipoprotein C2 ISO protein:decreased expression:plasma RGD PMID:2242096 RGD:1601212 NCBI chrNW_004936706:1,531,219...1,531,921 JBrowse link
G D APOC2 apolipoprotein C2 ISO protein:decreased expression:plasma RGD PMID:2242096 RGD:1601212 NCBI chr 1:110,504,806...110,506,986
Ensembl chr 1:110,504,815...110,506,961 		JBrowse link
G B APOC2 apolipoprotein C2 ISO protein:decreased expression:plasma RGD PMID:2242096 RGD:1601212 NCBI chr19:41,892,954...41,896,461 JBrowse link
G C Apoc2 apolipoprotein C2 ISO protein:decreased expression:plasma RGD PMID:2242096 RGD:1601212 NCBI chrNW_004955555:2,019,547...2,021,543
Ensembl chrNW_004955555:2,016,217...2,021,830 		JBrowse link
G R Apoc2 apolipoprotein C2 ISO protein:decreased expression:plasma RGD PMID:2242096 RGD:1601212 NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476 		JBrowse link
G M Apoc2 apolipoprotein C2 ISO protein:decreased expression:plasma RGD PMID:2242096 RGD:1601212 NCBI chr 7:19,405,504...19,411,866
Ensembl chr 7:19,405,504...19,411,866 		JBrowse link
G H APOC2 apolipoprotein C2 IEP protein:decreased expression:plasma RGD PMID:2242096 RGD:1601212 NCBI chr19:44,946,051...44,949,565
Ensembl chr19:44,946,035...44,949,565 		JBrowse link
G H LOC106560211 APOB 5' regulatory region IAGP ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL
ClinVar Annotator: match by term: Hypobetalipoproteinemia 		ClinVar PMID:16199547 PMID:20032471 PMID:24503134 PMID:25741868 PMID:28492532 NCBI chr 2:21,041,088...21,049,341 JBrowse link
G N Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: Hypobetalipoproteinemia
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia 		ClinVar PMID:11668641 PMID:12175777 PMID:12730697 PMID:14727156 PMID:15358785 More... NCBI chrNW_004624862:4,873,457...4,895,836
Ensembl chrNW_004624862:4,879,561...4,895,776 		JBrowse link
G G PCSK9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: Hypobetalipoproteinemia
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia 		ClinVar PMID:11668641 PMID:12175777 PMID:12730697 PMID:14727156 PMID:15358785 More... NCBI chr20:77,893,574...77,921,076
Ensembl chr20:77,893,590...77,918,613 		JBrowse link
G P PCSK9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: Hypobetalipoproteinemia
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia 		ClinVar PMID:11668641 PMID:12175777 PMID:12730697 PMID:14727156 PMID:15358785 More... NCBI chr 6:157,388,370...157,409,620
Ensembl chr 6:157,388,372...157,409,551 		JBrowse link
G S Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: Hypobetalipoproteinemia
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia 		ClinVar PMID:11668641 PMID:12175777 PMID:12730697 PMID:14727156 PMID:15358785 More... NCBI chrNW_004936522:6,271,339...6,300,202
Ensembl chrNW_004936522:6,272,507...6,299,917 		JBrowse link
G D PCSK9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: Hypobetalipoproteinemia
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia 		ClinVar PMID:11668641 PMID:12175777 PMID:12730697 PMID:14727156 PMID:15358785 More... NCBI chr 5:54,197,211...54,210,724 JBrowse link
G B PCSK9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: Hypobetalipoproteinemia
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia 		ClinVar PMID:11668641 PMID:12175777 PMID:12730697 PMID:14727156 PMID:15358785 More... NCBI chr 1:54,323,036...54,355,397
Ensembl chr 1:55,911,016...55,936,456 		JBrowse link
G C Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: Hypobetalipoproteinemia
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia 		ClinVar PMID:11668641 PMID:12175777 PMID:12730697 PMID:14727156 PMID:15358785 More... NCBI chrNW_004955464:4,424,583...4,439,805
Ensembl chrNW_004955464:4,425,435...4,439,842 		JBrowse link
G R Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO DNA:insertion:cds:c.43_44CTG (human)
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: Hypobetalipoproteinemia
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia 		ClinVar
RGD		 PMID:11668641 PMID:12175777 PMID:12730697 PMID:14727156 PMID:15358785 More... RGD:1580999 NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688 		JBrowse link
G M Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO DNA:insertion:cds:c.43_44CTG (human)
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: Hypobetalipoproteinemia
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia 		ClinVar
RGD		 PMID:11668641 PMID:12175777 PMID:12730697 PMID:14727156 PMID:15358785 More... RGD:1580999 NCBI chr 4:106,299,531...106,321,522
Ensembl chr 4:106,299,526...106,321,526 		JBrowse link
G H PCSK9 proprotein convertase subtilisin/kexin type 9 IAGP DNA:insertion:cds:c.43_44CTG (human)
ClinVar Annotator: match by term: Hypobetalipoproteinemia
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: Hypobetalipoproteinemia
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia 		ClinVar
RGD		 PMID:11668641 PMID:12175777 PMID:12730697 PMID:14727156 PMID:15358785 More... RGD:1580999 NCBI chr 1:55,039,548...55,064,852
Ensembl chr 1:55,039,445...55,064,852 		JBrowse link
Norum disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: APOLIPOPROTEIN A-I (GIESSEN) ClinVar PMID:6489332 PMID:7082443 PMID:28492532 NCBI chrNW_004624784:12,249,283...12,251,215
Ensembl chrNW_004624784:12,249,283...12,251,136 		JBrowse link
G G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: APOLIPOPROTEIN A-I (GIESSEN) ClinVar PMID:6489332 PMID:7082443 PMID:28492532 NCBI chr 1:108,201,967...108,203,902
Ensembl chr 1:108,201,439...108,203,609 		JBrowse link
G P APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: APOLIPOPROTEIN A-I (GIESSEN) ClinVar PMID:6489332 PMID:7082443 PMID:28492532 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713 		JBrowse link
G S Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: APOLIPOPROTEIN A-I (GIESSEN) ClinVar PMID:6489332 PMID:7082443 PMID:28492532 NCBI chrNW_004936542:2,111,055...2,112,626
Ensembl chrNW_004936542:2,111,052...2,112,854 		JBrowse link
G D APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: APOLIPOPROTEIN A-I (GIESSEN) ClinVar PMID:6489332 PMID:7082443 PMID:28492532 NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943 		JBrowse link
G B APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: APOLIPOPROTEIN A-I (GIESSEN) ClinVar PMID:6489332 PMID:7082443 PMID:28492532 NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122 		JBrowse link
G C Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: APOLIPOPROTEIN A-I (GIESSEN) ClinVar PMID:6489332 PMID:7082443 PMID:28492532 NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298 		JBrowse link
G R Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: APOLIPOPROTEIN A-I (GIESSEN) ClinVar PMID:6489332 PMID:7082443 PMID:28492532 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G M Apoa1 apolipoprotein A-I ISO ClinVar Annotator: match by term: APOLIPOPROTEIN A-I (GIESSEN) ClinVar PMID:6489332 PMID:7082443 PMID:28492532 NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764 		JBrowse link
G H APOA1 apolipoprotein A1 IAGP ClinVar Annotator: match by term: APOLIPOPROTEIN A-I (GIESSEN) ClinVar PMID:6489332 PMID:7082443 PMID:28492532 NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G N Lcat lecithin-cholesterol acyltransferase ISO ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: LCAT-related condition | ClinVar Annotator: match by term: LCATA DEFICIENCY | ClinVar Annotator: match by term: Norum disease OMIM
ClinVar		 PMID:1516702 PMID:1571050 PMID:1588268 PMID:1662503 PMID:1681161 More... NCBI chrNW_004624746:18,438,308...18,441,650
Ensembl chrNW_004624746:18,437,429...18,441,806 		JBrowse link
G G LCAT lecithin-cholesterol acyltransferase ISO ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: LCAT-related condition | ClinVar Annotator: match by term: LCATA DEFICIENCY | ClinVar Annotator: match by term: Norum disease OMIM
ClinVar		 PMID:1516702 PMID:1571050 PMID:1588268 PMID:1662503 PMID:1681161 More... NCBI chr 5:59,495,936...59,500,530
Ensembl chr 5:59,497,115...59,500,448 		JBrowse link
G P LCAT lecithin-cholesterol acyltransferase ISO ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: LCAT-related condition | ClinVar Annotator: match by term: LCATA DEFICIENCY | ClinVar Annotator: match by term: Norum disease OMIM
ClinVar		 PMID:1516702 PMID:1571050 PMID:1588268 PMID:1662503 PMID:1681161 More... NCBI chr 6:28,550,356...28,553,561
Ensembl chr 6:28,550,358...28,553,566 		JBrowse link
G S Lcat lecithin-cholesterol acyltransferase ISO ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: LCAT-related condition | ClinVar Annotator: match by term: LCATA DEFICIENCY | ClinVar Annotator: match by term: Norum disease OMIM
ClinVar		 PMID:1516702 PMID:1571050 PMID:1588268 PMID:1662503 PMID:1681161 More... NCBI chrNW_004936475:18,294,013...18,297,433
Ensembl chrNW_004936475:18,293,716...18,298,248 		JBrowse link
G D LCAT lecithin-cholesterol acyltransferase ISO ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: LCAT-related condition | ClinVar Annotator: match by term: LCATA DEFICIENCY | ClinVar Annotator: match by term: Norum disease OMIM
ClinVar		 PMID:1516702 PMID:1571050 PMID:1588268 PMID:1662503 PMID:1681161 More... NCBI chr 5:81,556,047...81,559,313 JBrowse link
G B LCAT lecithin-cholesterol acyltransferase ISO ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: LCAT-related condition | ClinVar Annotator: match by term: LCATA DEFICIENCY | ClinVar Annotator: match by term: Norum disease OMIM
ClinVar		 PMID:1516702 PMID:1571050 PMID:1588268 PMID:1662503 PMID:1681161 More... NCBI chr16:48,278,137...48,285,305
Ensembl chr16:67,668,646...67,673,127 		JBrowse link
G C Lcat lecithin-cholesterol acyltransferase ISO ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: LCAT-related condition | ClinVar Annotator: match by term: LCATA DEFICIENCY | ClinVar Annotator: match by term: Norum disease OMIM
ClinVar		 PMID:1516702 PMID:1571050 PMID:1588268 PMID:1662503 PMID:1681161 More... NCBI chrNW_004955484:8,772,692...8,776,122
Ensembl chrNW_004955484:8,772,692...8,776,122 		JBrowse link
G R Lcat lecithin cholesterol acyltransferase ISO
ISS 		ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: LCAT-related condition | ClinVar Annotator: match by term: LCATA DEFICIENCY | ClinVar Annotator: match by term: Norum disease
OMIM:245900
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1516702 PMID:1571050 PMID:1588268 PMID:1662503 PMID:1681161 More... RGD:1581778 NCBI chr19:33,834,748...33,838,214
Ensembl chr19:33,834,403...33,838,231 		JBrowse link
G M Lcat lecithin cholesterol acyltransferase ISO
IAGP 		ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: LCAT-related condition | ClinVar Annotator: match by term: LCATA DEFICIENCY | ClinVar Annotator: match by term: Norum disease
CTD Direct Evidence: marker/mechanism
OMIM:245900 		ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:1516702 PMID:1571050 PMID:1588268 PMID:1662503 PMID:1681161 More... RGD:1581778 NCBI chr 8:106,666,183...106,670,034
Ensembl chr 8:106,666,183...106,670,014 		JBrowse link
G H LCAT lecithin-cholesterol acyltransferase IAGP
ISS
EXP 		ClinVar Annotator: match by term: LCAT deficiency
ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: LCAT-related condition | ClinVar Annotator: match by term: Norum disease
ClinVar Annotator: match by term: Fish-eye disease
ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: Norum disease
ClinVar Annotator: match by term: LCATA DEFICIENCY
OMIM:245900
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1516702 PMID:1571050 PMID:1588268 PMID:1662503 PMID:1681161 More... RGD:1581778 NCBI chr16:67,939,750...67,944,120
Ensembl chr16:67,939,750...67,944,131 		JBrowse link
G H LOC130059254 ATAC-STARR-seq lymphoblastoid active region 10998 IAGP ClinVar Annotator: match by term: LCAT deficiency ClinVar PMID:28492532 NCBI chr16:67,942,319...67,942,368 JBrowse link
G N Slc12a4 solute carrier family 12 member 4 ISO ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: Norum disease ClinVar PMID:1571050 PMID:1662503 PMID:7613477 PMID:9541390 PMID:9741700 More... NCBI chrNW_004624746:18,414,589...18,438,278
Ensembl chrNW_004624746:18,414,520...18,441,806 		JBrowse link
G G SLC12A4 solute carrier family 12 member 4 ISO ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: Norum disease ClinVar PMID:1571050 PMID:1662503 PMID:7613477 PMID:9541390 PMID:9741700 More... NCBI chr 5:59,472,831...59,495,690
Ensembl chr 5:59,472,874...59,495,669 		JBrowse link
G P SLC12A4 solute carrier family 12 member 4 ISO ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: Norum disease ClinVar PMID:1571050 PMID:1662503 PMID:7613477 PMID:9541390 PMID:9741700 More... NCBI chr 6:28,554,162...28,576,458
Ensembl chr 6:28,553,616...28,576,504 		JBrowse link
G S Slc12a4 solute carrier family 12 member 4 ISO ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: Norum disease ClinVar PMID:1571050 PMID:1662503 PMID:7613477 PMID:9541390 PMID:9741700 More... NCBI chrNW_004936475:18,297,394...18,319,191
Ensembl chrNW_004936475:18,297,394...18,321,892 		JBrowse link
G D SLC12A4 solute carrier family 12 member 4 ISO ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: Norum disease ClinVar PMID:1571050 PMID:1662503 PMID:7613477 PMID:9541390 PMID:9741700 More... NCBI chr 5:81,533,491...81,555,901
Ensembl chr 5:81,533,470...81,559,313 		JBrowse link
G B SLC12A4 solute carrier family 12 member 4 ISO ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: Norum disease ClinVar PMID:1571050 PMID:1662503 PMID:7613477 PMID:9541390 PMID:9741700 More... NCBI chr16:48,285,265...48,309,614
Ensembl chr16:67,673,087...67,697,280 		JBrowse link
G C Slc12a4 solute carrier family 12 member 4 ISO ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: Norum disease ClinVar PMID:1571050 PMID:1662503 PMID:7613477 PMID:9541390 PMID:9741700 More... NCBI chrNW_004955484:8,749,194...8,772,599
Ensembl chrNW_004955484:8,749,194...8,772,599 		JBrowse link
G R Slc12a4 solute carrier family 12 member 4 ISO ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: Norum disease ClinVar PMID:1571050 PMID:1662503 PMID:7613477 PMID:9541390 PMID:9741700 More... NCBI chr19:33,838,418...33,860,369
Ensembl chr19:33,838,419...33,860,331 		JBrowse link
G M Slc12a4 solute carrier family 12, member 4 ISO ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: Norum disease ClinVar PMID:1571050 PMID:1662503 PMID:7613477 PMID:9541390 PMID:9741700 More... NCBI chr 8:106,670,222...106,692,781
Ensembl chr 8:106,670,222...106,692,729 		JBrowse link
G H SLC12A4 solute carrier family 12 member 4 IAGP ClinVar Annotator: match by term: Fish-eye disease
ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: Norum disease
ClinVar Annotator: match by term: LCAT deficiency 		ClinVar PMID:1571050 PMID:1662503 PMID:7613477 PMID:9541390 PMID:9741700 More... NCBI chr16:67,943,474...67,968,694
Ensembl chr16:67,943,474...67,969,601 		JBrowse link
primary hypoalphalipoproteinemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Abca1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: ABCA1-related disorder | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Familial high density lipoprotein deficiency disease | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 OMIM
ClinVar		 PMID:7945562 PMID:10431236 PMID:10431237 PMID:10525055 PMID:10706591 More... NCBI chrNW_004624758:6,449,583...6,590,244
Ensembl chrNW_004624758:6,449,629...6,588,664 		JBrowse link
G G ABCA1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: ABCA1-related disorder | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Familial high density lipoprotein deficiency disease | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 OMIM
ClinVar		 PMID:7945562 PMID:10431236 PMID:10431237 PMID:10525055 PMID:10706591 More... NCBI chr12:34,587,123...34,734,936
Ensembl chr12:34,587,118...34,731,642 		JBrowse link
G P ABCA1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: ABCA1-related disorder | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Familial high density lipoprotein deficiency disease | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 OMIM
ClinVar		 PMID:7945562 PMID:10431236 PMID:10431237 PMID:10525055 PMID:10706591 More... NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492 		JBrowse link
G S Abca1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: ABCA1-related disorder | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Familial high density lipoprotein deficiency disease | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 OMIM
ClinVar		 PMID:7945562 PMID:10431236 PMID:10431237 PMID:10525055 PMID:10706591 More... NCBI chrNW_004936559:7,177,887...7,312,660
Ensembl chrNW_004936559:7,177,904...7,312,741 		JBrowse link
G D ABCA1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: ABCA1-related disorder | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Familial high density lipoprotein deficiency disease | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 OMIM
ClinVar		 PMID:7945562 PMID:10431236 PMID:10431237 PMID:10525055 PMID:10706591 More... NCBI chr11:60,761,669...60,869,753
Ensembl chr11:60,761,655...60,890,496 		JBrowse link
G B ABCA1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: ABCA1-related disorder | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Familial high density lipoprotein deficiency disease | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 OMIM
ClinVar		 PMID:7945562 PMID:10431236 PMID:10431237 PMID:10525055 PMID:10706591 More... NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188 		JBrowse link
G C Abca1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: ABCA1-related disorder | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Familial high density lipoprotein deficiency disease | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 OMIM
ClinVar		 PMID:7945562 PMID:10431236 PMID:10431237 PMID:10525055 PMID:10706591 More... NCBI chrNW_004955419:21,553,863...21,681,626
Ensembl chrNW_004955419:21,553,835...21,681,619 		JBrowse link
G R Abca1 ATP binding cassette subfamily A member 1 ISO DNA:mutations: :
ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: ABCA1-related disorder | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Familial high density lipoprotein deficiency disease | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1
CTD Direct Evidence: marker/mechanism 		ClinVar
OMIM
CTD
RGD		 PMID:7945562 PMID:10431236 PMID:10431237 PMID:10525055 PMID:10706591 More... RGD:1298571 NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170 		JBrowse link
G M Abca1 ATP-binding cassette, sub-family A member 1 ISO DNA:mutations: :
ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: ABCA1-related disorder | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Familial high density lipoprotein deficiency disease | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1
CTD Direct Evidence: marker/mechanism 		ClinVar
OMIM
CTD
RGD		 PMID:7945562 PMID:10431236 PMID:10431237 PMID:10525055 PMID:10706591 More... RGD:1298571 NCBI chr 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895 		JBrowse link
G H ABCA1 ATP binding cassette subfamily A member 1 IAGP
EXP 		DNA:mutations: :
ClinVar Annotator: match by term: ABCA1-related disorder | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1
ClinVar Annotator: match by term: ABCA1-related disorder | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1
ClinVar Annotator: match by term: Familial high density lipoprotein deficiency disease
ClinVar Annotator: match by term: ABCA1 polymorphism
CTD Direct Evidence: marker/mechanism 		ClinVar
OMIM
CTD
RGD		 PMID:7945562 PMID:10431236 PMID:10431237 PMID:10525055 PMID:10706591 More... RGD:1298571 NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155 		JBrowse link
G N Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 ClinVar PMID:1901417 PMID:17303779 PMID:20884842 PMID:21443680 PMID:21820994 More... NCBI chrNW_004624784:12,249,283...12,251,215
Ensembl chrNW_004624784:12,249,283...12,251,136 		JBrowse link
G G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 ClinVar PMID:1901417 PMID:17303779 PMID:20884842 PMID:21443680 PMID:21820994 More... NCBI chr 1:108,201,967...108,203,902
Ensembl chr 1:108,201,439...108,203,609 		JBrowse link
G P APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 ClinVar PMID:1901417 PMID:17303779 PMID:20884842 PMID:21443680 PMID:21820994 More... NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713 		JBrowse link
G S Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 ClinVar PMID:1901417 PMID:17303779 PMID:20884842 PMID:21443680 PMID:21820994 More... NCBI chrNW_004936542:2,111,055...2,112,626
Ensembl chrNW_004936542:2,111,052...2,112,854 		JBrowse link
G D APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 ClinVar PMID:1901417 PMID:17303779 PMID:20884842 PMID:21443680 PMID:21820994 More... NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943 		JBrowse link
G B APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 ClinVar PMID:1901417 PMID:17303779 PMID:20884842 PMID:21443680 PMID:21820994 More... NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122 		JBrowse link
G C Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 ClinVar PMID:1901417 PMID:17303779 PMID:20884842 PMID:21443680 PMID:21820994 More... NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298 		JBrowse link
G R Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 ClinVar PMID:1901417 PMID:17303779 PMID:20884842 PMID:21443680 PMID:21820994 More... NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G M Apoa1 apolipoprotein A-I ISO ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 ClinVar PMID:1901417 PMID:17303779 PMID:20884842 PMID:21443680 PMID:21820994 More... NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764 		JBrowse link
G H APOA1 apolipoprotein A1 IAGP ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1
ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 		ClinVar PMID:1901417 PMID:17303779 PMID:20884842 PMID:21443680 PMID:21820994 More... NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G H APOA1-AS APOA1 antisense RNA IAGP ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1
ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 		ClinVar PMID:1901417 PMID:17303779 PMID:20884842 PMID:21820994 PMID:23209431 More... NCBI chr11:116,836,117...116,855,729
Ensembl chr11:116,836,117...116,856,210 		JBrowse link
G B LOC100972546 protein NipSnap homolog 3B ISO ClinVar Annotator: match by term: ABCA1-related disorder | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 ClinVar PMID:12009425 PMID:12054535 PMID:15262183 PMID:15935359 PMID:16429166 More... NCBI chr 9:75,931,560...75,941,825 JBrowse link
G G LOC103219087 protein NipSnap homolog 3B ISO ClinVar Annotator: match by term: ABCA1-related disorder | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 ClinVar PMID:12009425 PMID:12054535 PMID:15262183 PMID:15935359 PMID:16429166 More... NCBI chr12:34,738,132...34,753,336 JBrowse link
G H LOC105376196 uncharacterized LOC105376196 IAGP ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 ClinVar PMID:11940086 PMID:20595220 PMID:25741868 NCBI chr 9:104,926,789...104,939,091 JBrowse link
G H LOC121331340 Sharpr-MPRA regulatory region 1797 IAGP ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 ClinVar PMID:28492532 NCBI chr 9:104,810,828...104,811,122 JBrowse link
G H LOC130002274 ATAC-STARR-seq lymphoblastoid active region 28733 IAGP ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 ClinVar NCBI chr 9:104,927,845...104,927,924 JBrowse link
G H LOC130002275 ATAC-STARR-seq lymphoblastoid silent region 20147 IAGP ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 ClinVar PMID:11940086 PMID:20595220 PMID:25741868 NCBI chr 9:104,928,125...104,928,314 JBrowse link
G H NIPSNAP3B nipsnap homolog 3B IAGP ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1
ClinVar Annotator: match by term: ABCA1-related disorder | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 		ClinVar PMID:12009425 PMID:12054535 PMID:15262183 PMID:15935359 PMID:16429166 More... NCBI chr 9:104,764,129...104,790,899
Ensembl chr 9:104,764,129...104,777,764 		JBrowse link
primary hypoalphalipoproteinemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: APOA1-related condition | ClinVar Annotator: match by term: Apolipoprotein A-I deficiency | ClinVar Annotator: match by term: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2 | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2, intermediate OMIM
ClinVar		 PMID:1898657 PMID:1901417 PMID:2108924 PMID:2123470 PMID:2506176 More... NCBI chrNW_004624784:12,249,283...12,251,215
Ensembl chrNW_004624784:12,249,283...12,251,136 		JBrowse link
G G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: APOA1-related condition | ClinVar Annotator: match by term: Apolipoprotein A-I deficiency | ClinVar Annotator: match by term: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2 | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2, intermediate OMIM
ClinVar		 PMID:1898657 PMID:1901417 PMID:2108924 PMID:2123470 PMID:2506176 More... NCBI chr 1:108,201,967...108,203,902
Ensembl chr 1:108,201,439...108,203,609 		JBrowse link
G P APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: APOA1-related condition | ClinVar Annotator: match by term: Apolipoprotein A-I deficiency | ClinVar Annotator: match by term: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2 | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2, intermediate OMIM
ClinVar		 PMID:1898657 PMID:1901417 PMID:2108924 PMID:2123470 PMID:2506176 More... NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713 		JBrowse link
G S Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: APOA1-related condition | ClinVar Annotator: match by term: Apolipoprotein A-I deficiency | ClinVar Annotator: match by term: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2 | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2, intermediate OMIM
ClinVar		 PMID:1898657 PMID:1901417 PMID:2108924 PMID:2123470 PMID:2506176 More... NCBI chrNW_004936542:2,111,055...2,112,626
Ensembl chrNW_004936542:2,111,052...2,112,854 		JBrowse link
G D APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: APOA1-related condition | ClinVar Annotator: match by term: Apolipoprotein A-I deficiency | ClinVar Annotator: match by term: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2 | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2, intermediate OMIM
ClinVar		 PMID:1898657 PMID:1901417 PMID:2108924 PMID:2123470 PMID:2506176 More... NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943 		JBrowse link
G B APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: APOA1-related condition | ClinVar Annotator: match by term: Apolipoprotein A-I deficiency | ClinVar Annotator: match by term: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2 | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2, intermediate OMIM
ClinVar		 PMID:1898657 PMID:1901417 PMID:2108924 PMID:2123470 PMID:2506176 More... NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122 		JBrowse link
G C Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: APOA1-related condition | ClinVar Annotator: match by term: Apolipoprotein A-I deficiency | ClinVar Annotator: match by term: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2 | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2, intermediate OMIM
ClinVar		 PMID:1898657 PMID:1901417 PMID:2108924 PMID:2123470 PMID:2506176 More... NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298 		JBrowse link
G R Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: APOA1-related condition | ClinVar Annotator: match by term: Apolipoprotein A-I deficiency | ClinVar Annotator: match by term: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2 | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2, intermediate OMIM
ClinVar		 PMID:1898657 PMID:1901417 PMID:2108924 PMID:2123470 PMID:2506176 More... NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G M Apoa1 apolipoprotein A-I ISO ClinVar Annotator: match by term: APOA1-related condition | ClinVar Annotator: match by term: Apolipoprotein A-I deficiency | ClinVar Annotator: match by term: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2 | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2, intermediate OMIM
ClinVar		 PMID:1898657 PMID:1901417 PMID:2108924 PMID:2123470 PMID:2506176 More... NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764 		JBrowse link
G H APOA1 apolipoprotein A1 IAGP ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2
ClinVar Annotator: match by term: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: Apolipoprotein A-I deficiency
ClinVar Annotator: match by term: APOA1-related condition | ClinVar Annotator: match by term: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2, intermediate
ClinVar Annotator: match by term: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2 | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2, intermediate 		ClinVar
OMIM		 PMID:1898657 PMID:1901417 PMID:2108924 PMID:2123470 PMID:2506176 More... NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G H APOA1-AS APOA1 antisense RNA IAGP ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2
ClinVar Annotator: match by term: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2 | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2, intermediate
ClinVar Annotator: match by term: APOA1-related condition | ClinVar Annotator: match by term: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2, intermediate
ClinVar Annotator: match by term: Apolipoprotein A-I deficiency 		ClinVar PMID:1901417 PMID:2108924 PMID:2123470 PMID:2506176 PMID:2512329 More... NCBI chr11:116,836,117...116,855,729
Ensembl chr11:116,836,117...116,856,210 		JBrowse link
G N Apoa4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chrNW_004624784:12,237,329...12,240,013
Ensembl chrNW_004624784:12,233,593...12,239,763 		JBrowse link
G G APOA4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chr 1:108,186,627...108,190,508
Ensembl chr 1:108,186,921...108,189,698 		JBrowse link
G P APOA4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chr 9:44,201,587...44,204,072
Ensembl chr 9:44,201,508...44,204,206 		JBrowse link
G S Apoa4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chrNW_004936542:2,098,683...2,101,127
Ensembl chrNW_004936542:2,098,683...2,101,127 		JBrowse link
G D APOA4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chr 5:16,751,588...16,754,215
Ensembl chr 5:16,751,799...16,754,837 		JBrowse link
G B APOA4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chr11:111,659,186...111,661,790
Ensembl chr11:115,591,788...115,594,382 		JBrowse link
G C Apoa4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chrNW_004955412:18,158,095...18,160,636
Ensembl chrNW_004955412:18,155,801...18,160,701 		JBrowse link
G R Apoa4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G M Apoa4 apolipoprotein A-IV ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chr 9:46,152,142...46,154,756
Ensembl chr 9:46,151,994...46,154,757 		JBrowse link
G H APOA4 apolipoprotein A4 IAGP ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304 		JBrowse link
G N Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chrNW_004624784:12,244,565...12,246,790
Ensembl chrNW_004624784:12,244,646...12,246,790 		JBrowse link
G G APOC3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chr 1:108,196,283...108,199,274
Ensembl chr 1:108,196,939...108,199,342 		JBrowse link
G P APOC3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chr 9:44,211,171...44,213,538
Ensembl chr 9:44,211,194...44,213,533 		JBrowse link
G S Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chrNW_004936542:2,106,927...2,108,412
Ensembl chrNW_004936542:2,106,318...2,108,603 		JBrowse link
G D APOC3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chr 5:16,744,423...16,746,992
Ensembl chr 5:16,744,423...16,746,992 		JBrowse link
G B APOC3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460 		JBrowse link
G C Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chrNW_004955412:18,165,667...18,168,015
Ensembl chrNW_004955412:18,165,667...18,168,015 		JBrowse link
G R Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chr 8:55,428,172...55,430,352
Ensembl chr 8:46,531,478...46,533,583 		JBrowse link
G M Apoc3 apolipoprotein C-III ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chr 9:46,144,348...46,146,934
Ensembl chr 9:46,144,231...46,146,934 		JBrowse link
G H APOC3 apolipoprotein C3 IAGP ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072 		JBrowse link
G H LOC111718489 skeletal muscle cis-regulatory module in APOA4 and APOC3 intergenic region IAGP ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chr11:116,825,292...116,825,807 JBrowse link
Tangier disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Abca1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: ABCA1-related condition | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease
ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease 		OMIM
ClinVar		 PMID:7945562 PMID:10431236 PMID:10431237 PMID:10535983 PMID:10706591 More... NCBI chrNW_004624758:6,449,583...6,590,244
Ensembl chrNW_004624758:6,449,629...6,588,664 		JBrowse link
G G ABCA1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: ABCA1-related condition | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease
ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease 		OMIM
ClinVar		 PMID:7945562 PMID:10431236 PMID:10431237 PMID:10535983 PMID:10706591 More... NCBI chr12:34,587,123...34,734,936
Ensembl chr12:34,587,118...34,731,642 		JBrowse link
G P ABCA1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: ABCA1-related condition | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease
ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease 		OMIM
ClinVar		 PMID:7945562 PMID:10431236 PMID:10431237 PMID:10535983 PMID:10706591 More... NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492 		JBrowse link
G S Abca1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: ABCA1-related condition | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease
ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease 		OMIM
ClinVar		 PMID:7945562 PMID:10431236 PMID:10431237 PMID:10535983 PMID:10706591 More... NCBI chrNW_004936559:7,177,887...7,312,660
Ensembl chrNW_004936559:7,177,904...7,312,741 		JBrowse link
G D ABCA1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: ABCA1-related condition | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease
ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease 		OMIM
ClinVar		 PMID:7945562 PMID:10431236 PMID:10431237 PMID:10535983 PMID:10706591 More... NCBI chr11:60,761,669...60,869,753
Ensembl chr11:60,761,655...60,890,496 		JBrowse link
G B ABCA1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: ABCA1-related condition | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease
ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease 		OMIM
ClinVar		 PMID:7945562 PMID:10431236 PMID:10431237 PMID:10535983 PMID:10706591 More... NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188 		JBrowse link
G C Abca1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: ABCA1-related condition | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease
ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease 		OMIM
ClinVar		 PMID:7945562 PMID:10431236 PMID:10431237 PMID:10535983 PMID:10706591 More... NCBI chrNW_004955419:21,553,863...21,681,626
Ensembl chrNW_004955419:21,553,835...21,681,619 		JBrowse link
G R Abca1 ATP binding cassette subfamily A member 1 ISO
ISS 		ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: ABCA1-related condition | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease
ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease
OMIM:205400
CTD Direct Evidence: marker/mechanism
DNA:mutations: : 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:7945562 PMID:10431236 PMID:10431237 PMID:10535983 PMID:10706591 More... RGD:1600951, RGD:19165130, RGD:1298571 NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170 		JBrowse link
G M Abca1 ATP-binding cassette, sub-family A member 1 ISO
IMP
IAGP 		ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: ABCA1-related condition | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease
ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease
OMIM:205400
CTD Direct Evidence: marker/mechanism
DNA:mutations: : 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:7945562 PMID:10431236 PMID:10431237 PMID:10535983 PMID:10706591 More... RGD:1600951, RGD:19165130, RGD:1298571 NCBI chr 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895 		JBrowse link
G H ABCA1 ATP binding cassette subfamily A member 1 IAGP
ISS
ISO
EXP 		ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease
ClinVar Annotator: match by term: ABCA1-related condition | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease
ClinVar Annotator: match by term: ABCA1-related condition | ClinVar Annotator: match by term: Tangier disease
OMIM:205400
ClinVar Annotator: match by term: ABCA1 polymorphism
CTD Direct Evidence: marker/mechanism
DNA:mutations: : 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:7945562 PMID:10431236 PMID:10431237 PMID:10535983 PMID:10706591 More... RGD:1600951, RGD:19165130, RGD:1298571 NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155 		JBrowse link
G N Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency ClinVar PMID:28492532 NCBI chrNW_004624784:12,249,283...12,251,215
Ensembl chrNW_004624784:12,249,283...12,251,136 		JBrowse link
G G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency ClinVar PMID:28492532 NCBI chr 1:108,201,967...108,203,902
Ensembl chr 1:108,201,439...108,203,609 		JBrowse link
G P APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency ClinVar PMID:28492532 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713 		JBrowse link
G S Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency ClinVar PMID:28492532 NCBI chrNW_004936542:2,111,055...2,112,626
Ensembl chrNW_004936542:2,111,052...2,112,854 		JBrowse link
G D APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency ClinVar PMID:28492532 NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943 		JBrowse link
G B APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency ClinVar PMID:28492532 NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122 		JBrowse link
G C Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency ClinVar PMID:28492532 NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298 		JBrowse link
G R Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency ClinVar PMID:28492532 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G M Apoa1 apolipoprotein A-I ISO ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency ClinVar PMID:28492532 NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764 		JBrowse link
G H APOA1 apolipoprotein A1 IAGP ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency ClinVar PMID:28492532 NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G H APOA1-AS APOA1 antisense RNA IAGP ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency ClinVar PMID:28492532 NCBI chr11:116,836,117...116,855,729
Ensembl chr11:116,836,117...116,856,210 		JBrowse link
G B LOC100972546 protein NipSnap homolog 3B ISO ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease ClinVar PMID:11476965 PMID:15935359 PMID:16429166 PMID:18199144 PMID:22923420 More... NCBI chr 9:75,931,560...75,941,825 JBrowse link
G G LOC103219087 protein NipSnap homolog 3B ISO ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease ClinVar PMID:11476965 PMID:15935359 PMID:16429166 PMID:18199144 PMID:22923420 More... NCBI chr12:34,738,132...34,753,336 JBrowse link
G H LOC105376196 uncharacterized LOC105376196 IAGP ClinVar Annotator: match by term: Tangier disease ClinVar PMID:11940086 PMID:20595220 PMID:25741868 NCBI chr 9:104,926,789...104,939,091 JBrowse link
G H LOC121331340 Sharpr-MPRA regulatory region 1797 IAGP ClinVar Annotator: match by term: Tangier disease ClinVar PMID:28492532 NCBI chr 9:104,810,828...104,811,122 JBrowse link
G H LOC130002274 ATAC-STARR-seq lymphoblastoid active region 28733 IAGP ClinVar Annotator: match by term: Tangier disease ClinVar NCBI chr 9:104,927,845...104,927,924 JBrowse link
G H LOC130002275 ATAC-STARR-seq lymphoblastoid silent region 20147 IAGP ClinVar Annotator: match by term: Tangier disease ClinVar PMID:11940086 PMID:20595220 PMID:25741868 NCBI chr 9:104,928,125...104,928,314 JBrowse link
G H NIPSNAP3B nipsnap homolog 3B IAGP ClinVar Annotator: match by term: Tangier disease
ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease 		ClinVar PMID:11476965 PMID:15935359 PMID:16429166 PMID:18199144 PMID:22923420 More... NCBI chr 9:104,764,129...104,790,899
Ensembl chr 9:104,764,129...104,777,764 		JBrowse link
Wolman Disease with Hypolipoproteinemia and Acanthocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Lipa lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Wolman disease with hypolipoproteinemia and acanthocytosis ClinVar PMID:7751811 PMID:7759067 PMID:8146180 PMID:8254026 PMID:8598644 More... NCBI chrNW_004624737:49,471...82,981
Ensembl chrNW_004624737:49,371...83,514 		JBrowse link
G G LIPA lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Wolman disease with hypolipoproteinemia and acanthocytosis ClinVar PMID:7751811 PMID:7759067 PMID:8146180 PMID:8254026 PMID:8598644 More... NCBI chr 9:82,639,220...82,677,479
Ensembl chr 9:82,638,621...82,677,488 		JBrowse link
G P LIPA lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Wolman disease with hypolipoproteinemia and acanthocytosis ClinVar PMID:7751811 PMID:7759067 PMID:8146180 PMID:8254026 PMID:8598644 More... NCBI chr14:101,131,372...101,254,739
Ensembl chr14:101,126,257...101,193,614 		JBrowse link
G D LIPA lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Wolman disease with hypolipoproteinemia and acanthocytosis ClinVar PMID:7751811 PMID:7759067 PMID:8146180 PMID:8254026 PMID:8598644 More... NCBI chr26:38,892,771...38,918,441
Ensembl chr26:38,893,337...38,918,436 		JBrowse link
G B LIPA lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Wolman disease with hypolipoproteinemia and acanthocytosis ClinVar PMID:7751811 PMID:7759067 PMID:8146180 PMID:8254026 PMID:8598644 More... NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874 		JBrowse link
G C Lipa lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Wolman disease with hypolipoproteinemia and acanthocytosis ClinVar PMID:7751811 PMID:7759067 PMID:8146180 PMID:8254026 PMID:8598644 More... NCBI chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142 		JBrowse link
G R Lipa lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Wolman disease with hypolipoproteinemia and acanthocytosis ClinVar PMID:7751811 PMID:7759067 PMID:8146180 PMID:8254026 PMID:8598644 More... NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633 		JBrowse link
G M Lipa lysosomal acid lipase A ISO ClinVar Annotator: match by term: Wolman disease with hypolipoproteinemia and acanthocytosis ClinVar PMID:7751811 PMID:7759067 PMID:8146180 PMID:8254026 PMID:8598644 More... NCBI chr19:34,469,716...34,504,874
Ensembl chr19:34,469,718...34,504,874 		JBrowse link
G H LIPA lipase A, lysosomal acid type IAGP ClinVar Annotator: match by term: Wolman disease with hypolipoproteinemia and acanthocytosis ClinVar PMID:7751811 PMID:7759067 PMID:8146180 PMID:8254026 PMID:8598644 More... NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 292546
    Nutritional and Metabolic Diseases 94069
      disease of metabolism 94069
        lipid metabolism disorder 18218
          hypolipoproteinemia 196
            Hypoalphalipoproteinemias + 70
            Norum disease 31
            Wolman Disease with Hypolipoproteinemia and Acanthocytosis 9
            abetalipoproteinemia + 30
            hypobetalipoproteinemia + 113
Path 2
Term Annotations click to browse term
  disease 292546
    Developmental Disease 170869
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156702
        genetic disease 151825
          inherited metabolic disorder 74838
            lipid metabolism disorder 18218
              Dyslipidemias 3627
                hypolipoproteinemia 196
                  Hypoalphalipoproteinemias + 70
                  Norum disease 31
                  Wolman Disease with Hypolipoproteinemia and Acanthocytosis 9
                  abetalipoproteinemia + 30
                  hypobetalipoproteinemia + 113
paths to the root