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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:platelet storage pool deficiency
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Accession:DOID:2223 term browser browse the term
Definition:Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored.
Synonyms:exact_synonym: Acquired Storage Pool Disease;   Familial Platelet Storage Pool Disease;   Platelet Storage Pool Deficiencies;   Platelet Storage Pool Disease;   STORAGE POOL DISEASE OF PLATELETS;   Storage Pool Deficiencies;   Storage Pool Deficiency;   dense body defect;   platelet dense granule deficiency;   platelet storage pool defect
 primary_id: MESH:D010981
 alt_id: OMIM:185050
 xref: EFO:1001112;   GARD:5034
For additional species annotation, visit the Alliance of Genome Resources.

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platelet storage pool deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO OMIM:185050 MouseDO NCBI chrNW_004955425:22,792,616...23,051,509
Ensembl chrNW_004955425:22,792,616...23,051,737 		JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO OMIM:185050 MouseDO NCBI chrNW_004955495:5,972,177...6,012,525
Ensembl chrNW_004955495:5,972,433...6,012,433 		JBrowse link
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 ISO OMIM:185050 MouseDO NCBI chrNW_004955465:5,910,095...5,943,996
Ensembl chrNW_004955465:5,910,160...5,942,662 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO OMIM:185050 MouseDO NCBI chrNW_004955409:7,902,125...7,913,966
Ensembl chrNW_004955409:7,899,601...7,913,966 		JBrowse link
G Dock7 dedicator of cytokinesis 7 ISO OMIM:185050 MouseDO NCBI chrNW_004955423:27,043,621...27,233,710
Ensembl chrNW_004955423:27,044,341...27,233,710 		JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO OMIM:185050 MouseDO NCBI chrNW_004955590:276,143...382,812
Ensembl chrNW_004955590:281,704...386,189 		JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Storage pool disease of platelets ClinVar PMID:25741868 NCBI chrNW_004955513:2,273,267...2,281,850
Ensembl chrNW_004955513:2,277,981...2,281,515 		JBrowse link
G Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 ISO OMIM:185050 MouseDO NCBI chrNW_004955507:4,408,428...4,433,219
Ensembl chrNW_004955507:4,409,035...4,429,348 		JBrowse link
G Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 ISO OMIM:185050 MouseDO NCBI chrNW_004955448:438,152...465,955 JBrowse link
G Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 ISO OMIM:185050 MouseDO NCBI chrNW_004955455:1,048,946...1,076,097
Ensembl chrNW_004955455:1,049,992...1,073,950 		JBrowse link
G Hps5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 ISO OMIM:185050 MouseDO NCBI chrNW_004955414:32,992,669...33,028,620
Ensembl chrNW_004955414:32,992,669...33,028,442 		JBrowse link
G Hps6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: Storage pool disease of platelets ClinVar PMID:25741868 PMID:28492532 PMID:31064749 NCBI chrNW_004955485:8,270,997...8,273,060
Ensembl chrNW_004955485:8,271,134...8,273,056 		JBrowse link
G Lyst lysosomal trafficking regulator ISO OMIM:185050 MouseDO NCBI chrNW_004955492:4,161,976...4,371,637
Ensembl chrNW_004955492:4,209,749...4,369,762 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO OMIM:185050 MouseDO NCBI chrNW_004955409:588,725...621,874
Ensembl chrNW_004955409:588,254...621,874 		JBrowse link
G Rab27b RAB27B, member RAS oncogene family ISO OMIM:185050 MouseDO NCBI chrNW_004955402:39,357,500...39,415,530
Ensembl chrNW_004955402:39,357,500...39,415,530 		JBrowse link
G Rab38 RAB38, member RAS oncogene family ISO RGD PMID:9250486 RGD:1302447 NCBI chrNW_004955414:5,158,860...5,214,108
Ensembl chrNW_004955414:5,158,261...5,215,698 		JBrowse link
G Slc7a11 solute carrier family 7 member 11 ISO OMIM:185050 MouseDO NCBI chrNW_004955428:5,238,460...5,309,085
Ensembl chrNW_004955428:5,237,865...5,309,085 		JBrowse link
Hermansky-Pudlak syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:16507770 PMID:23403622 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955425:22,792,616...23,051,509
Ensembl chrNW_004955425:22,792,616...23,051,737 		JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar NCBI chrNW_004955495:5,972,177...6,012,525
Ensembl chrNW_004955495:5,972,433...6,012,433 		JBrowse link
G Bloc1s3 biogenesis of lysosomal organelles complex 1 subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004955555:2,183,752...2,186,154
Ensembl chrNW_004955555:2,184,490...2,185,138 		JBrowse link
G Bloc1s4 biogenesis of lysosomal organelles complex 1 subunit 4 ISO MouseDO NCBI chrNW_004955514:3,698,644...3,699,227 JBrowse link
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:32565547 NCBI chrNW_004955465:5,910,095...5,943,996
Ensembl chrNW_004955465:5,910,160...5,942,662 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:10610180 PMID:21665000 PMID:22461475 PMID:25741868 PMID:26575419 More... NCBI chrNW_004955409:7,902,125...7,913,966
Ensembl chrNW_004955409:7,899,601...7,913,966 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:lung, alveolar macrophage (human) RGD PMID:19729668 RGD:4891476 NCBI chrNW_004955481:10,293,758...10,301,118
Ensembl chrNW_004955481:10,293,399...10,301,143 		JBrowse link
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:11590544 PMID:16199547 PMID:18414213 PMID:24033266 PMID:25741868 More... NCBI chrNW_004955448:470,063...522,909
Ensembl chrNW_004955448:473,179...523,100 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression ISO RGD PMID:25347450 RGD:11352293 NCBI chrNW_004955440:3,456,165...3,460,024
Ensembl chrNW_004955440:3,455,153...3,460,109 		JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:24033266 PMID:28492532 NCBI chrNW_004955590:276,143...382,812
Ensembl chrNW_004955590:281,704...386,189 		JBrowse link
G Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9536098 More... NCBI chrNW_004955507:4,408,428...4,433,219
Ensembl chrNW_004955507:4,409,035...4,429,348 		JBrowse link
G Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:11590544 PMID:16199547 PMID:17933573 PMID:18414213 PMID:24033266 More... NCBI chrNW_004955448:438,152...465,955 JBrowse link
G Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:12664304 PMID:24033266 PMID:25741868 PMID:26575419 PMID:28492532 More... NCBI chrNW_004955455:1,048,946...1,076,097
Ensembl chrNW_004955455:1,049,992...1,073,950 		JBrowse link
G Hps5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:12548288 PMID:15296495 PMID:16199547 PMID:21833017 PMID:23607980 More... NCBI chrNW_004955414:32,992,669...33,028,620
Ensembl chrNW_004955414:32,992,669...33,028,442 		JBrowse link
G Hps6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:12548288 PMID:17041891 PMID:19843503 PMID:24033266 PMID:25741868 More... NCBI chrNW_004955485:8,270,997...8,273,060
Ensembl chrNW_004955485:8,271,134...8,273,056 		JBrowse link
G Kxd1 KxDL motif containing 1 ISO MouseDO NCBI chrNW_004955524:3,010,997...3,018,309
Ensembl chrNW_004955524:3,006,147...3,018,772 		JBrowse link
G Rab38 RAB38, member RAS oncogene family ISO RGD PMID:19897744 RGD:2324690 NCBI chrNW_004955414:5,158,860...5,214,108
Ensembl chrNW_004955414:5,158,261...5,215,698 		JBrowse link
G Slc7a11 solute carrier family 7 member 11 ISO MouseDO NCBI chrNW_004955428:5,238,460...5,309,085
Ensembl chrNW_004955428:5,237,865...5,309,085 		JBrowse link
G Vps33a VPS33A core subunit of CORVET and HOPS complexes ISO MouseDO NCBI chrNW_004955482:6,333,282...6,352,369
Ensembl chrNW_004955482:6,332,366...6,353,834 		JBrowse link
Hermansky-Pudlak syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955425:22,792,616...23,051,509
Ensembl chrNW_004955425:22,792,616...23,051,737 		JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO OMIM:203300 MouseDO NCBI chrNW_004955495:5,972,177...6,012,525
Ensembl chrNW_004955495:5,972,433...6,012,433 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:25741868 PMID:28492532 PMID:33543539 NCBI chrNW_004955409:7,902,125...7,913,966
Ensembl chrNW_004955409:7,899,601...7,913,966 		JBrowse link
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955448:470,063...522,909
Ensembl chrNW_004955448:473,179...523,100 		JBrowse link
G Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: HPS1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1 OMIM
ClinVar		 PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9536098 More... NCBI chrNW_004955507:4,408,428...4,433,219
Ensembl chrNW_004955507:4,409,035...4,429,348 		JBrowse link
G Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:11590544 PMID:25741868 PMID:28492532 PMID:31898847 NCBI chrNW_004955448:438,152...465,955 JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO OMIM:203300 MouseDO NCBI chrNW_004955409:588,725...621,874
Ensembl chrNW_004955409:588,254...621,874 		JBrowse link
Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: AP3D1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 10 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26744459 PMID:28492532 More... NCBI chrNW_004955495:5,972,177...6,012,525
Ensembl chrNW_004955495:5,972,433...6,012,433 		JBrowse link
Hermansky-Pudlak Syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 11 OMIM
ClinVar		 PMID:25741868 PMID:32565547 NCBI chrNW_004955465:5,910,095...5,943,996
Ensembl chrNW_004955465:5,910,160...5,942,662 		JBrowse link
Hermansky-Pudlak syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aggf1 angiogenic factor with G-patch and FHA domains 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chrNW_004955425:23,847,502...23,873,964
Ensembl chrNW_004955425:23,847,673...23,874,404 		JBrowse link
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 OMIM
ClinVar		 PMID:8042664 PMID:9536098 PMID:10024875 PMID:11809908 PMID:14566336 More... NCBI chrNW_004955425:22,792,616...23,051,509
Ensembl chrNW_004955425:22,792,616...23,051,737 		JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955495:5,972,177...6,012,525
Ensembl chrNW_004955495:5,972,433...6,012,433 		JBrowse link
G Arsb arylsulfatase B ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chrNW_004955425:22,120,507...22,281,221
Ensembl chrNW_004955425:22,119,930...22,279,006 		JBrowse link
G Crhbp corticotropin releasing hormone binding protein ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chrNW_004955425:23,953,957...23,966,207
Ensembl chrNW_004955425:23,953,912...23,966,352 		JBrowse link
G F2rl1 F2R like trypsin receptor 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chrNW_004955425:24,050,901...24,054,039 JBrowse link
G Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:11590544 PMID:25741868 PMID:28492532 PMID:31898847 PMID:32581362 NCBI chrNW_004955448:438,152...465,955 JBrowse link
G Lhfpl2 LHFPL tetraspan subfamily member 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chrNW_004955425:22,398,503...22,556,667
Ensembl chrNW_004955425:22,504,107...22,557,970 		JBrowse link
G Otp orthopedia homeobox ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chrNW_004955425:23,350,449...23,358,189
Ensembl chrNW_004955425:23,350,449...23,358,189 		JBrowse link
G Pde8b phosphodiesterase 8B ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chrNW_004955425:23,512,865...23,614,326
Ensembl chrNW_004955425:23,512,151...23,635,697 		JBrowse link
G S100z S100 calcium binding protein Z ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chrNW_004955425:24,014,039...24,022,842
Ensembl chrNW_004955425:24,014,039...24,022,870 		JBrowse link
G Scamp1 secretory carrier membrane protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chrNW_004955425:22,562,336...22,686,661
Ensembl chrNW_004955425:22,564,978...22,686,564 		JBrowse link
G Tbca tubulin folding cofactor A ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chrNW_004955425:23,301,457...23,312,740
Ensembl chrNW_004955425:23,300,480...23,313,497 		JBrowse link
G Wdr41 WD repeat domain 41 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chrNW_004955425:23,366,130...23,510,897
Ensembl chrNW_004955425:23,470,278...23,514,638 		JBrowse link
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3 ClinVar PMID:11590544 PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955448:470,063...522,909
Ensembl chrNW_004955448:473,179...523,100 		JBrowse link
G Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3 OMIM
ClinVar		 PMID:9536098 PMID:11455388 PMID:11590544 PMID:16199547 PMID:17576681 More... NCBI chrNW_004955448:438,152...465,955 JBrowse link
Hermansky-Pudlak syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome with pulmonary fibrosis ClinVar PMID:12442288 PMID:16185271 PMID:25741868 PMID:28492532 NCBI chrNW_004955507:4,408,428...4,433,219
Ensembl chrNW_004955507:4,409,035...4,429,348 		JBrowse link
G Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: HPS4-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4 OMIM
ClinVar		 PMID:11836498 PMID:12664304 PMID:15108212 PMID:16199547 PMID:20158590 More... NCBI chrNW_004955455:1,048,946...1,076,097
Ensembl chrNW_004955455:1,049,992...1,073,950 		JBrowse link
Hermansky-Pudlak syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: HPS5-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5 OMIM
ClinVar		 PMID:12548288 PMID:15296495 PMID:16199547 PMID:21833017 PMID:22995991 More... NCBI chrNW_004955414:32,992,669...33,028,620
Ensembl chrNW_004955414:32,992,669...33,028,442 		JBrowse link
Hermansky-Pudlak syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: HPS6-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6 OMIM
ClinVar		 PMID:12548288 PMID:17041891 PMID:19843503 PMID:20158590 PMID:24033266 More... NCBI chrNW_004955485:8,270,997...8,273,060
Ensembl chrNW_004955485:8,271,134...8,273,056 		JBrowse link
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dtnbp1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: DTNBP1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 7 OMIM
ClinVar		 PMID:12923531 PMID:23364359 PMID:24033266 PMID:25741868 PMID:28259707 More... NCBI chrNW_004955590:276,143...382,812
Ensembl chrNW_004955590:281,704...386,189 		JBrowse link
Hermansky-Pudlak syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s3 biogenesis of lysosomal organelles complex 1 subunit 3 ISO ClinVar Annotator: match by term: BLOC1S3-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8 OMIM
ClinVar		 PMID:16385460 PMID:22709368 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955555:2,183,752...2,186,154
Ensembl chrNW_004955555:2,184,490...2,185,138 		JBrowse link
Hermansky-Pudlak syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 9 OMIM
ClinVar		 PMID:9536098 PMID:10610180 PMID:16199547 PMID:17576681 PMID:21665000 More... NCBI chrNW_004955409:7,902,125...7,913,966
Ensembl chrNW_004955409:7,899,601...7,913,966 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      hematopoietic system disease 2941
        blood coagulation disease 847
          hemorrhagic disease 803
            blood platelet disease 312
              platelet storage pool deficiency 35
                Hermansky-Pudlak syndrome + 31
                Platelet Alpha/Delta Storage Pool Deficiency 0
Path 2
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  disease 16063
    disease of anatomical entity 13820
      Hemic and Lymphatic Diseases 3387
        hematopoietic system disease 2941
          blood coagulation disease 847
            hemorrhagic disease 803
              blood platelet disease 312
                platelet storage pool deficiency 35
                  Hermansky-Pudlak syndrome + 31
                  Platelet Alpha/Delta Storage Pool Deficiency 0
paths to the root