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
Accession: DOID:2223
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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Ap3b1
adaptor related protein complex 3 subunit beta 1
ISS
OMIM:185050
MouseDO
NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
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Ap3d1
adaptor related protein complex 3 subunit delta 1
ISS
OMIM:185050
MouseDO
NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
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Bloc1s5
biogenesis of lysosomal organelles complex 1 subunit 5
ISS
OMIM:185050
MouseDO
NCBI chr17:26,171,965...26,197,276
Ensembl chr17:26,172,018...26,197,251
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Bloc1s6
biogenesis of lysosomal organelles complex 1 subunit 6
ISS
OMIM:185050
MouseDO
NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
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Dock7
dedicator of cytokinesis 7
ISS
OMIM:185050
MouseDO
NCBI chr 5:113,599,371...113,782,871
Ensembl chr 5:113,600,198...113,782,813
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Dtnbp1
dystrobrevin binding protein 1
ISS
OMIM:185050
MouseDO
NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661
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Gfi1b
growth factor independent 1B transcriptional repressor
ISO
ClinVar Annotator: match by term: Storage pool disease of platelets
ClinVar
PMID:25741868
NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
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Hps1
HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
ISS
OMIM:185050
MouseDO
NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
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Hps3
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
ISS
OMIM:185050
MouseDO
NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
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Hps4
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
ISS
OMIM:185050
MouseDO
NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
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Hps5
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
ISS
OMIM:185050
MouseDO
NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019
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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 chr 1:244,853,256...244,855,865
Ensembl chr 1:244,853,194...244,855,883
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Lyst
lysosomal trafficking regulator
ISS
OMIM:185050
MouseDO
NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480
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Rab27a
RAB27A, member RAS oncogene family
ISS
OMIM:185050
MouseDO
NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
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Rab27b
RAB27B, member RAS oncogene family
ISS
OMIM:185050
MouseDO
NCBI chr18:63,597,554...63,794,124
Ensembl chr18:63,600,937...63,757,180
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Rab38
RAB38, member RAS oncogene family
IAGP
RGD
PMID:9250486
RGD:1302447
NCBI chr 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924
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Rab38ru
Rab38, member of RAS oncogene family, ruby allele
IAGP
RGD
PMID:9250486
RGD:1302447
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Runx1
RUNX family transcription factor 1
ISO
ClinVar Annotator: match by term: Storage pool disease of platelets
ClinVar
PMID:25741868 PMID:31064749
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Slc7a11
solute carrier family 7 member 11
ISS
OMIM:185050
MouseDO
NCBI chr 2:134,382,002...134,517,622
Ensembl chr 2:133,963,107...134,517,536
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Ap3b1
adaptor related protein complex 3 subunit beta 1
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome DNA:duplication, deletions:introns, exons: (mouse)
ClinVar RGD
PMID:16507770 PMID:23403622 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31898847 PMID:12125811 PMID:11056055 PMID:11861280 More...
RGD:1578409 , RGD:11087577 , RGD:11087576
NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
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Ap3d1
adaptor related protein complex 3 subunit delta 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD ClinVar
NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
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Bloc1s3
biogenesis of lysosomal organelles complex-1, subunit 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD ClinVar
PMID:25741868 PMID:31064749
NCBI chr 1:79,155,873...79,158,247
Ensembl chr 1:79,155,693...79,158,505
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Bloc1s4
biogenesis of lysosomal organelles complex 1 subunit 4
ISS
MouseDO
NCBI chr14:74,043,025...74,044,325
Ensembl chr14:74,043,015...74,044,531
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Bloc1s5
biogenesis of lysosomal organelles complex 1 subunit 5
ISS ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
MouseDO ClinVar
PMID:32565547
NCBI chr17:26,171,965...26,197,276
Ensembl chr17:26,172,018...26,197,251
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Bloc1s6
biogenesis of lysosomal organelles complex 1 subunit 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD ClinVar
PMID:10610180 PMID:21665000 PMID:22461475 PMID:25741868 PMID:26575419 PMID:28492532 PMID:33543539 More...
NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
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Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:lung, alveolar macrophage (human)
RGD
PMID:19729668
RGD:4891476
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Cp
ceruloplasmin
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
ClinVar
PMID:11590544 PMID:16199547 PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30990103 PMID:31064749 PMID:31898847 More...
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Cxcr4
C-X-C motif chemokine receptor 4
disease_progression
ISO
RGD
PMID:25347450
RGD:11352293
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Dtnbp1
dystrobrevin binding protein 1
ISO
DNA:deletion:intron, exon ClinVar Annotator: match by term: Hermansky-Pudlak syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:24033266 PMID:28492532 PMID:12923531
RGD:11251756
NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661
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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 PMID:9562579 PMID:9705234 PMID:10971344 PMID:12442288 PMID:14510955 PMID:15519141 PMID:15952982 PMID:16185271 PMID:16199547 PMID:17365864 PMID:17576681 PMID:19334085 PMID:19398212 PMID:19665357 PMID:20301464 PMID:20514622 PMID:20662851 PMID:21458243 PMID:23103514 PMID:24033266 PMID:24583434 PMID:25741868 PMID:26575419 PMID:26785811 PMID:26806224 PMID:27593200 PMID:28081892 PMID:28492532 PMID:29941477 PMID:30387913 PMID:30634918 PMID:30985222 PMID:31064749 PMID:31141302 PMID:31898847 PMID:32581362 PMID:32662942 PMID:32725903 PMID:33878481 PMID:34216551 PMID:34362826 PMID:34838614 More...
NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
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Hps3
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
ISO
DNA:deletion: ClinVar Annotator: match by term: Hermansky-Pudlak syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:11590544 PMID:16199547 PMID:17933573 PMID:18414213 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26575419 PMID:27593200 PMID:28492532 PMID:30387913 PMID:30990103 PMID:31064749 PMID:31141302 PMID:31898847 PMID:32581362 PMID:35886065 PMID:11455388 More...
RGD:1599538
NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
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Hps4
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome CTD Direct Evidence: marker/mechanism DNA:nonsense,frameshift,insertion mutations:cds: DNA:nonsense mutation:exon: c.541C>T(p.Q181X) (rs119471022)
ClinVar CTD RGD
PMID:12664304 PMID:24033266 PMID:25741868 PMID:26575419 PMID:28492532 PMID:31898847 PMID:12664304 PMID:11836498 PMID:23563589 More...
RGD:1599546 , RGD:11354897 , RGD:11353873
NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
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Hps5
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
ISO
DNA:mutations:multiple: ClinVar Annotator: match by term: Hermansky-Pudlak syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:12548288 PMID:15296495 PMID:16199547 PMID:21833017 PMID:23607980 PMID:24698632 PMID:25741868 PMID:26785811 PMID:28492532 PMID:28640947 PMID:31064749 PMID:15296495 More...
RGD:11072072
NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019
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Hps6
HPS6, biogenesis of lysosomal organelles complex 2 subunit 3
ISO
DNA:mutations:multiple: CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD ClinVar RGD
PMID:12548288 PMID:17041891 PMID:19843503 PMID:24033266 PMID:25741868 PMID:26575419 PMID:27225848 PMID:27593200 PMID:28492532 PMID:29345414 PMID:31064749 PMID:33878481 PMID:35054407 PMID:12548288 PMID:19843503 More...
RGD:632833 , RGD:11073544
NCBI chr 1:244,853,256...244,855,865
Ensembl chr 1:244,853,194...244,855,883
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Kxd1
KxDL motif containing 1
ISS
MouseDO
NCBI chr16:18,895,343...18,916,266
Ensembl chr16:18,900,616...18,920,807
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Rab38
RAB38, member RAS oncogene family
IAGP
RGD
PMID:19897744
RGD:2324690
NCBI chr 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924
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Rab38ru
Rab38, member of RAS oncogene family, ruby allele
IAGP
RGD
PMID:19897744
RGD:2324690
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Rabggta
Rab geranylgeranyltransferase subunit alpha
ISS
MouseDO
NCBI chr15:29,206,328...29,213,398
Ensembl chr15:29,206,157...29,213,348
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Slc7a11
solute carrier family 7 member 11
ISS
MouseDO
NCBI chr 2:134,382,002...134,517,622
Ensembl chr 2:133,963,107...134,517,536
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Vps33a
VPS33A core subunit of CORVET and HOPS complexes
ISS
MouseDO
NCBI chr12:33,024,596...33,051,399
Ensembl chr12:33,024,650...33,051,393
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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 chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
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Ap3d1
adaptor related protein complex 3 subunit delta 1
ISS
OMIM:203300
MouseDO
NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
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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 chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
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Cp
ceruloplasmin
ISO
ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Hps1
HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
ISO ISS
DNA:duplication:exon ClinVar Annotator: match by term: HPS1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1 OMIM:203300 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9536098 PMID:9562579 PMID:9705234 PMID:10971344 PMID:12442288 PMID:14510955 PMID:15519141 PMID:15952982 PMID:16185271 PMID:16199547 PMID:17365864 PMID:17576681 PMID:18326704 PMID:19334085 PMID:19398212 PMID:19665357 PMID:20301464 PMID:20514622 PMID:20662851 PMID:21458243 PMID:21833017 PMID:24033266 PMID:24583434 PMID:25741868 PMID:26575419 PMID:26785811 PMID:26806224 PMID:27593200 PMID:28081892 PMID:28492532 PMID:29345414 PMID:29941477 PMID:30387913 PMID:30634918 PMID:30985222 PMID:31064749 PMID:31141302 PMID:31898847 PMID:32581362 PMID:32662942 PMID:32725903 PMID:33878481 PMID:34216551 PMID:34362826 PMID:34838614 PMID:8896559 More...
RGD:1625056
NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
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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 chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
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Rab27a
RAB27A, member RAS oncogene family
ISS
OMIM:203300
MouseDO
NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
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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 PMID:32935436 PMID:36430862 More...
NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
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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 chr17:26,171,965...26,197,276
Ensembl chr17:26,172,018...26,197,251
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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 chr 2:26,619,336...26,646,050
Ensembl chr 2:26,619,339...26,645,952
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Ap3b1
adaptor related protein complex 3 subunit beta 1
ISO ISS
OMIM:608233 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
OMIM MouseDO CTD ClinVar
PMID:8042664 PMID:9536098 PMID:10024875 PMID:11809908 PMID:14566336 PMID:16199547 PMID:16507770 PMID:16537806 PMID:16551969 PMID:17576681 PMID:23265383 PMID:23403622 PMID:24033266 PMID:25741868 PMID:25980904 PMID:27781387 PMID:28492532 PMID:31898847 PMID:32935436 More...
NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
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Ap3d1
adaptor related protein complex 3 subunit delta 1
ISS ISO
OMIM:608233 ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
MouseDO ClinVar
PMID:28492532
NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
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Arsb
arylsulfatase B
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
ClinVar
PMID:16507770 PMID:23403622 PMID:28492532
NCBI chr 2:25,002,210...25,162,675
Ensembl chr 2:25,002,346...25,162,671
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Crhbp
corticotropin releasing hormone binding protein
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
ClinVar
PMID:16507770 PMID:23403622 PMID:28492532
NCBI chr 2:26,692,403...26,704,710
Ensembl chr 2:26,692,403...26,704,710
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F2rl1
F2R like trypsin receptor 1
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
ClinVar
PMID:16507770 PMID:23403622 PMID:28492532
NCBI chr 2:26,772,274...26,785,226
Ensembl chr 2:26,772,278...26,785,226
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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 chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
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Lhfpl2
LHFPL tetraspan subfamily member 2
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
ClinVar
PMID:16507770 PMID:23403622 PMID:28492532
NCBI chr 2:25,281,771...25,428,128
Ensembl chr 2:25,281,901...25,427,950
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Otp
orthopedia homeobox
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
ClinVar
PMID:16507770 PMID:23403622 PMID:28492532
NCBI chr 2:26,108,158...26,116,359
Ensembl chr 2:26,108,163...26,116,359
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Pde8b
phosphodiesterase 8B
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
ClinVar
PMID:16507770 PMID:23403622 PMID:28492532
NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209
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S100z
S100 calcium binding protein Z
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
ClinVar
PMID:16507770 PMID:23403622 PMID:28492532
NCBI chr 2:26,737,796...26,753,611
Ensembl chr 2:26,738,776...26,752,390
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Scamp1
secretory carrier membrane protein 1
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
ClinVar
PMID:16507770 PMID:23403622 PMID:28492532
NCBI chr 2:25,433,958...25,516,734
Ensembl chr 2:25,433,959...25,516,673
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Tbca
tubulin folding cofactor A
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
ClinVar
PMID:16507770 PMID:23403622 PMID:28492532
NCBI chr 2:26,011,714...26,065,909
Ensembl chr 2:26,011,795...26,065,907
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Wdr41
WD repeat domain 41
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
ClinVar
PMID:16507770 PMID:23403622 PMID:28492532
NCBI chr 2:26,222,797...26,273,849
Ensembl chr 2:26,224,495...26,273,836
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Zbed3
zinc finger, BED-type containing 3
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
ClinVar
PMID:16507770 PMID:23403622 PMID:28492532
NCBI chr 2:26,587,620...26,600,177
Ensembl chr 2:26,587,572...26,600,386
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Cp
ceruloplasmin
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3
ClinVar
PMID:11590544 PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30990103 PMID:31064749 PMID:31898847 More...
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Hps3
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
ISO ISS
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3 OMIM:614072 DNA:splice-site mutation:intron:1303+1G>A (human)
OMIM ClinVar MouseDO RGD
PMID:9536098 PMID:11455388 PMID:11590544 PMID:16199547 PMID:17576681 PMID:17933573 PMID:18414213 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26575419 PMID:27593200 PMID:28492532 PMID:30387913 PMID:30791930 PMID:30990103 PMID:31064749 PMID:31141302 PMID:31880485 PMID:31898847 PMID:32581362 PMID:32725903 PMID:35886065 PMID:11590544 More...
RGD:11041885
NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
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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 chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
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Hps4
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
ISO ISS
OMIM:614073 ClinVar Annotator: match by term: HPS4-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4
OMIM MouseDO ClinVar
PMID:11836498 PMID:12664304 PMID:15108212 PMID:16199547 PMID:20158590 PMID:21833017 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29600982 PMID:30985222 PMID:31898847 More...
NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
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Hps5
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
ISO ISS
ClinVar Annotator: match by term: HPS5-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5 OMIM:614074
OMIM ClinVar MouseDO
PMID:12548288 PMID:15296495 PMID:16199547 PMID:21833017 PMID:22995991 PMID:23607980 PMID:24033266 PMID:24698632 PMID:25741868 PMID:26785811 PMID:28296950 PMID:28492532 PMID:28640947 PMID:31064749 More...
NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019
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Hps6
HPS6, biogenesis of lysosomal organelles complex 2 subunit 3
ISO ISS
ClinVar Annotator: match by term: HPS6-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6 OMIM:614075
OMIM ClinVar MouseDO
PMID:12548288 PMID:17041891 PMID:19843503 PMID:20158590 PMID:24033266 PMID:25741868 PMID:25949529 PMID:27225848 PMID:27593200 PMID:28492532 PMID:29054114 PMID:29345414 PMID:30369044 PMID:30387913 PMID:31064749 PMID:31141302 PMID:31898847 PMID:32581362 PMID:32725903 PMID:32830442 PMID:33878481 PMID:35054407 More...
NCBI chr 1:244,853,256...244,855,865
Ensembl chr 1:244,853,194...244,855,883
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Dtnbp1
dystrobrevin binding protein 1
ISO ISS
ClinVar Annotator: match by term: DTNBP1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 7 OMIM:614076
OMIM ClinVar MouseDO
PMID:12923531 PMID:23364359 PMID:24033266 PMID:25741868 PMID:28259707 PMID:28492532 PMID:30990103 More...
NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661
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Bloc1s3
biogenesis of lysosomal organelles complex-1, subunit 3
ISO ISS
OMIM:614077 ClinVar Annotator: match by term: BLOC1S3-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8
OMIM MouseDO ClinVar
PMID:16385460 PMID:22709368 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29345414 More...
NCBI chr 1:79,155,873...79,158,247
Ensembl chr 1:79,155,693...79,158,505
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Bloc1s6
biogenesis of lysosomal organelles complex 1 subunit 6
ISO ISS
OMIM:614171 ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 9
OMIM MouseDO ClinVar
PMID:9536098 PMID:10610180 PMID:16199547 PMID:17576681 PMID:21665000 PMID:22461475 PMID:25741868 PMID:26575419 PMID:28492532 PMID:32245340 PMID:33543539 More...
NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
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