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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Abnormal platelet volume
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Accession:HP:0011876 term browser browse the term
Definition:Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers.
Synonyms:xref: UMLS:C4023152


show annotations for term's descendants           Sort by:
Abnormal platelet volume term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD26 ankyrin repeat domain containing 26 IAGP HPO MIM:188000 NCBI chr10:26,947,582...27,100,494
Ensembl chr10:26,973,793...27,100,494 		JBrowse link
G CYCS cytochrome c, somatic IAGP HPO MIM:612004 NCBI chr 7:25,118,656...25,125,260
Ensembl chr 7:25,118,656...25,125,260 		JBrowse link
Decreased mean platelet volume term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARPC1B actin related protein 2/3 complex subunit 1B IAGP HPO MIM:617718 NCBI chr 7:99,374,259...99,394,816
Ensembl chr 7:99,374,249...99,394,816 		JBrowse link
G FYB1 FYN binding protein 1 IAGP HPO MIM:273900 NCBI chr 5:39,105,252...39,274,528
Ensembl chr 5:39,105,252...39,274,528 		JBrowse link
G IFNL4 interferon lambda 4 (gene/pseudogene) IAGP DNA:SNP:intron: (rs12979860) (human) RGD PMID:25740255 RGD:40400752 NCBI chr19:39,246,314...39,248,856
Ensembl chr19:39,246,314...39,248,856 		JBrowse link
G PTPRJ protein tyrosine phosphatase receptor type J IAGP HPO MIM:620484 NCBI chr11:47,980,559...48,170,839
Ensembl chr11:47,980,425...48,170,839 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO MIM:301000 MIM:313900 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
Giant platelets term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG5 ATP binding cassette subfamily G member 5 IAGP HPO ORPHA:2882 NCBI chr 2:43,806,211...43,839,231
Ensembl chr 2:43,812,472...43,838,865 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 IAGP HPO MIM:210250 ORPHA:2882 NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) IAGP HPO MIM:608404 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277 		JBrowse link
G COG1 component of oligomeric golgi complex 1 IAGP HPO MIM:611209 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507 		JBrowse link
G GALE UDP-galactose-4-epimerase IAGP HPO MIM:620776 NCBI chr 1:23,795,599...23,800,754
Ensembl chr 1:23,795,599...23,800,781 		JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP HPO MIM:231200 ORPHA:274 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP DNA:mutations:cds:p.Y88C,A108P(human) HPO
RGD		 PMID:9116284 MIM:231200 ORPHA:274, RGD:11040528 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GP9 glycoprotein IX platelet IAGP HPO MIM:231200 ORPHA:274 NCBI chr 3:129,054,845...129,062,406
Ensembl chr 3:129,060,779...129,062,406 		JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP HPO MIM:187800 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G LBR lamin B receptor IAGP HPO MIM:169400 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP associated with MYH9-Related Disorders;DNA:mutation:cds:p.D1424N(human) HPO
RGD		 PMID:12649151 MIM:155100 ORPHA:182050, RGD:11533923 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G SLC35A1 solute carrier family 35 member A1 IAGP HPO ORPHA:238459 NCBI chr 6:87,472,974...87,512,336
Ensembl chr 6:87,470,623...87,512,336 		JBrowse link
Increased mean platelet volume term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta IAGP HPO MIM:620475 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ACTN1 actinin alpha 1 IAGP HPO MIM:615193 NCBI chr14:68,874,128...68,979,302
Ensembl chr14:68,874,123...68,979,440 		JBrowse link
G CDC42 cell division cycle 42 IAGP HPO MIM:616737 ORPHA:487796 NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360 		JBrowse link
G DIAPH1 diaphanous related formin 1 IAGP HPO ORPHA:494444 NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		JBrowse link
G EFCAB13-DT EFCAB13 divergent transcript IAGP ClinVar Annotator: match by term: Increased mean platelet volume ClinVar PMID:32581362 NCBI chr17:47,303,443...47,323,901
Ensembl chr17:47,279,525...47,492,672 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP HPO MIM:617443 NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267 		JBrowse link
G FLNA filamin A IAGP HPO MIM:300048 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO MIM:314050 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO MIM:620757 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP HPO MIM:153670 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP ClinVar Annotator: match by term: Increased mean platelet volume ClinVar PMID:10887115 PMID:25741868 PMID:31064749 PMID:32581362 PMID:34355501 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G ITGB3 integrin subunit beta 3 IAGP ClinVar Annotator: match by term: Increased mean platelet volume ClinVar
HPO		 PMID:32581362 MIM:619271 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Large platelets ClinVar
HPO		 PMID:25741868 PMID:31064749 ORPHA:182050 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G SEPTIN5 septin 5 IAGP ClinVar Annotator: match by term: Increased mean platelet volume ClinVar PMID:10887115 PMID:25741868 PMID:31064749 PMID:32581362 PMID:34355501 NCBI chr22:19,717,220...19,724,774
Ensembl chr22:19,717,220...19,724,772
Ensembl chr22:19,717,220...19,724,772 		JBrowse link
G SKIC2 SKI2 subunit of superkiller complex IAGP HPO ORPHA:84064 NCBI chr 6:31,959,175...31,969,751
Ensembl chr 6:31,959,116...31,969,818 		JBrowse link
G SKIC3 SKI3 subunit of superkiller complex IAGP HPO MIM:222470 ORPHA:84064 NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050 		JBrowse link
G TPM4 tropomyosin 4 IAGP HPO MIM:620486 NCBI chr19:16,067,538...16,103,002
Ensembl chr19:16,067,021...16,103,005 		JBrowse link
Macrothrombocytopenia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG5 ATP binding cassette subfamily G member 5 IAGP HPO ORPHA:2882 NCBI chr 2:43,806,211...43,839,231
Ensembl chr 2:43,812,472...43,838,865 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 IAGP HPO ORPHA:2882 NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988 		JBrowse link
G ACTN1 actinin alpha 1 IAGP ClinVar Annotator: match by term: Macrothrombocytopenia
ClinVar Annotator: match by term: Macrothrombozytopenia		 ClinVar PMID:23434115 PMID:24069336 PMID:25361813 PMID:25741868 PMID:25949529 More... NCBI chr14:68,874,128...68,979,302
Ensembl chr14:68,874,123...68,979,440 		JBrowse link
G DIAPH1 diaphanous related formin 1 IAGP HPO MIM:124900 NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Macrothrombozytopenia
ClinVar Annotator: match by term: Macrothrombocytopenia		 ClinVar PMID:21960593 PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G GALE UDP-galactose-4-epimerase IAGP HPO MIM:620776 NCBI chr 1:23,795,599...23,800,754
Ensembl chr 1:23,795,599...23,800,781 		JBrowse link
G GATA1 GATA binding protein 1 IAGP ClinVar Annotator: match by term: Macrothrombocytopenia ClinVar
HPO		 PMID:25741868 PMID:31064749 ORPHA:67044 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor IAGP DNA:nonsense mutation:c.859C>T, p.Gln287X(human) HPO
RGD		 PMID:24325358 MIM:187900, RGD:11040508 NCBI chr 9:132,945,531...132,993,434
Ensembl chr 9:132,944,000...132,991,687 		JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP ClinVar Annotator: match by term: Macrothrombocytopenia ClinVar
HPO		 PMID:1730088 PMID:24934643 PMID:25741868 PMID:29082515 PMID:31064749 More... MIM:231200 ORPHA:274 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP DNA:missense mutation:exon:c.281A>G(p.D94G)(human)
ClinVar Annotator: match by term: Macrothrombocytopenia		 HPO
ClinVar
RGD		 PMID:10887115 PMID:25741868 PMID:31064749 PMID:32581362 PMID:34355501 More... MIM:231200 ORPHA:274, RGD:13464128 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GP9 glycoprotein IX platelet IAGP DNA:missense mutation:cds:c.182A>G(p.N61S)(human)
ClinVar Annotator: match by term: Macrothrombocytopenia		 ClinVar
HPO
RGD		 PMID:8049428 PMID:8481514 PMID:9163595 PMID:9432024 PMID:14510954 More... MIM:231200 ORPHA:274, RGD:13464128 NCBI chr 3:129,054,845...129,062,406
Ensembl chr 3:129,060,779...129,062,406 		JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP ClinVar Annotator: match by term: Macrothrombocytopenia ClinVar
HPO		 PMID:21917754 PMID:25728920 PMID:25741868 PMID:28492532 PMID:31064749 MIM:187800 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G ITGB3 integrin subunit beta 3 IAGP ClinVar Annotator: match by term: Macrothrombocytopenia ClinVar PMID:25741868 PMID:31064749 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G LOC107988032 Xq28 proximal FLNA-EMD recombination region IAGP ClinVar Annotator: match by term: Macrothrombocytopenia ClinVar NCBI chr  X:154,335,912...154,349,572 JBrowse link
G LOC126863137 CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:36696002-36697201 IAGP ClinVar Annotator: match by term: Macrothrombocytopenia ClinVar NCBI chr22:36,299,956...36,301,155 JBrowse link
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Macrothrombocytopenia ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:29090586 PMID:31064749 PMID:34355501 MIM:155100 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G PRKACG protein kinase cAMP-activated catalytic subunit gamma IAGP HPO MIM:616176 NCBI chr 9:69,012,504...69,014,113
Ensembl chr 9:69,012,504...69,014,113 		JBrowse link
G SEPTIN5 septin 5 IAGP ClinVar Annotator: match by term: Macrothrombocytopenia ClinVar PMID:10887115 PMID:25741868 PMID:31064749 PMID:32581362 PMID:34355501 NCBI chr22:19,717,220...19,724,774
Ensembl chr22:19,717,220...19,724,772
Ensembl chr22:19,717,220...19,724,772 		JBrowse link
G SEPTIN5 septin 5 IAGP ClinVar Annotator: match by term: Macrothrombocytopenia ClinVar PMID:25741868 PMID:31064749 NCBI chr22:19,714,503...19,723,319
Ensembl chr22:19,714,503...19,724,224 		JBrowse link
G SLC35A1 solute carrier family 35 member A1 IAGP HPO MIM:603585 NCBI chr 6:87,472,974...87,512,336
Ensembl chr 6:87,470,623...87,512,336 		JBrowse link
G THPO thrombopoietin IAGP ClinVar Annotator: match by term: Macrothrombocytopenia ClinVar PMID:25741868 PMID:31064749 PMID:32150607 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968 		JBrowse link
G TPM4 tropomyosin 4 IAGP HPO MIM:620486 NCBI chr19:16,067,538...16,103,002
Ensembl chr19:16,067,021...16,103,005 		JBrowse link
G TUBA8 tubulin alpha 8 IAGP HPO MIM:619840 NCBI chr22:18,110,809...18,131,732
Ensembl chr22:18,110,100...18,146,683 		JBrowse link
G TUBB1 tubulin beta 1 class VI IAGP ClinVar Annotator: match by term: Macrothrombocytopenia ClinVar
HPO		 PMID:18849486 PMID:24777453 PMID:25741868 PMID:27346686 PMID:28054583 More... MIM:613112 NCBI chr20:59,016,438...59,026,654
Ensembl chr20:59,019,429...59,026,654 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Abnormality of blood and blood-forming tissues 3783
        Abnormality of thrombocytes 567
          Abnormal platelet morphology 534
            Abnormal platelet volume 41
              Decreased mean platelet volume 5
              Increased mean platelet volume + 34
paths to the root