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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:Acquired Agranulocytosis
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Accession:DOID:9007038 term browser browse the term
Synonyms:exact_synonym: Agranulocytic Angina;   Granulocytopenia, Primary;   Neutropenia, Malignant
 primary_id: MESH:C538171;   RDO:0004110



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Chemotherapy-Induced Febrile Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme severity IAGP DNA:deletion:intron:IVS16+1464-1751del (human)
associated with acute leukemia;DNA:insertion/deletion:intron 16:
RGD PMID:15806540 PMID:24819208 RGD:11038917, RGD:11530041 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G CYP3A5 cytochrome P450 family 3 subfamily A member 5 susceptibility IAGP associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G(human) RGD PMID:19332043 RGD:11353804 NCBI chr 7:99,648,194...99,679,996
Ensembl chr 7:99,648,194...99,679,996
JBrowse link
G FCGR3A Fc gamma receptor IIIa treatment IAGP associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human) RGD PMID:27282998 RGD:11344967 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility IAGP DNA:polymorphism: : rs1695(human) RGD PMID:25008867 RGD:10755412 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
JBrowse link
G ITPA inosine triphosphatase IAGP associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human) RGD PMID:18685564 RGD:10766478 NCBI chr20:3,204,065...3,227,449
Ensembl chr20:3,208,868...3,223,870
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility
disease progression
IAGP associated with leukemia;
associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphisms:exon:
associated with Neoplasms;DNA:SNP,haplotyep:promoter:
RGD PMID:24819208 PMID:24453114 PMID:20930093 RGD:11530041, RGD:11530056, RGD:11530043 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G MDM2 MDM2 proto-oncogene susceptibility IAGP associated with Breast Neoplasms;DNA:SNP:cds:309T>G(rs2279744)(human) RGD PMID:21706156 RGD:11073725 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544
JBrowse link
G TP53 tumor protein p53 susceptibility IAGP associated with Breast Neoplasms;DNA:SNP:cds: p.R72P(rs1042522)(human) RGD PMID:21706156 RGD:11073725 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
Drug-Induced Agranulocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSF3 colony stimulating factor 3 treatment IDA associated with Graves Disease;
associated with Multiple Myeloma;
RGD PMID:15785251 PMID:8935143 RGD:11039034, RGD:11039041 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G IL1B interleukin 1 beta treatment IDA associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL1RN interleukin 1 receptor antagonist IEP associated with Leukemia;protein:decreased expression:serum: RGD PMID:8698137 RGD:11528539 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G NAT2 N-acetyltransferase 2 IAGP associated with Inflammation; RGD PMID:10739170 RGD:11532771 NCBI chr 8:18,386,301...18,401,218
Ensembl chr 8:18,391,282...18,401,218
JBrowse link
Drug-induced Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 susceptibility IAGP associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP: :2677G>T(human)
Breast Neoplasms;DNA:SNP: :3435 C>T(human)
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNPs:rs1045642,rs1128503(human)
RGD PMID:17534875 PMID:22271208 PMID:25007187 RGD:11080964, RGD:11081001, RGD:11080979 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 susceptibility
no_association
IAGP associated with neoplasm;DNA:SNP:rs12762549(human) RGD PMID:18294295 PMID:23188068 RGD:11080980, RGD:11080999 NCBI chr10:99,782,640...99,852,594
Ensembl chr10:99,782,640...99,852,594
JBrowse link
G CSF3 colony stimulating factor 3 treatment IDA associated with Leukemia, Hairy Cell;
associated with Hepatitis C, Chronic;
RGD PMID:2461131 PMID:17660602 RGD:11039035, RGD:11039036 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G CYP2C8 cytochrome P450 family 2 subfamily C member 8 susceptibility IAGP associated with Ovarian Neoplasms: DNA:polymorphism: : RGD PMID:21702053 RGD:11353800 NCBI chr10:95,036,772...95,069,497
Ensembl chr10:95,036,772...95,069,497
JBrowse link
G CYP3A5 cytochrome P450 family 3 subfamily A member 5 susceptibility IAGP associated with Ovarian Neoplasms: DNA:polymorphism: :
associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G(human)
RGD PMID:21702053 PMID:19332043 RGD:11353800, RGD:11353804 NCBI chr 7:99,648,194...99,679,996
Ensembl chr 7:99,648,194...99,679,996
JBrowse link
G DPYD dihydropyrimidine dehydrogenase treatment
no_association
IAGP associated with Neoplasms;DNA:splice-site mutation:intron:IVS14+1G>A (human)
associated with Neoplasms;DNA:missense mutations: :multiple
associated with Neoplasms;DNA:missense mutation: :p.M166V (496A>G) (human)
DNA:splice-site mutation, missense mutations: :multiple
associated with Colorectal Neoplasms;DNA:SNPs: :rs1801159 (1896T>C), rs17376848 (human)
RGD PMID:12209976 PMID:19473056 PMID:19473056 PMID:11156223 PMID:23942539 RGD:11251736, RGD:11098817, RGD:11098817, RGD:11251738, RGD:11251737 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment IAGP associated with Colorectal Neoplasms;DNA:SNP RGD PMID:23543295 RGD:11340199 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit treatment IAGP associated with Urinary Bladder Neoplasms;DNA:SNP: :p.K751Q (rs13181) (human) RGD PMID:21047201 RGD:11098572 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor treatment IAGP associated with lung non-small cell carcinoma;DNA:SNP:intron: (rs4253212) (human) RGD PMID:28924235 RGD:153323316 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
JBrowse link
G FCGR3A Fc gamma receptor IIIa IAGP associated with Lymphoma, Large B-Cell, Diffuse;DNA:polymorphism: :p.V158F (human)
associated with Lymphoma, B-Cell;DNA:polymorphism: :p.V158F (human)
associated with Non-Hodgkin lymphoma;DNA:polymorphism: :p.V158F (human)
RGD PMID:21883784 PMID:20730791 PMID:19933905 RGD:11344964, RGD:11352256, RGD:11344973 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility IAGP DNA:SNP:cds:p.I105V (rs1695) (human) RGD PMID:23812950 RGD:10755330 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
JBrowse link
G GSTT1 glutathione S-transferase theta 1 susceptibility IAGP associated with breast cancer RGD PMID:23812950 RGD:10755330
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP RGD PMID:27400856 RGD:14928329 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G IL1A interleukin 1 alpha treatment IEP associated with Carcinoma, Non-Small-Cell Lung RGD PMID:7666093 RGD:11051963 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G MDM2 MDM2 proto-oncogene susceptibility IAGP associated with Small Cell Lung Carcinoma;DNA:SNP::rs2279744(human) RGD PMID:24732641 RGD:11073715 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544
JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit treatment IAGP associated with lung non-small cell carcinoma; DNA:SNPs:exon, introns: (rs1726801, rs1673041, rs3219341) (human) RGD PMID:28924235 RGD:153323316 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018
JBrowse link
G SLCO1B3 solute carrier organic anion transporter family member 1B3 susceptibility
no_association
IAGP associated with neoplasm;DNA:SNP:rs11045585(human)
associated with neoplasm;DNA:SNP: rs11045585(human)
RGD PMID:18294295 PMID:23188068 RGD:11080980, RGD:11080999 NCBI chr12:20,810,705...20,916,911
Ensembl chr12:20,810,702...20,916,911
JBrowse link
G SOD2 superoxide dismutase 2 susceptibility IAGP associated with female breast cancer;DNA:missense mutation:cds:p.V16A (rs4880) (human) RGD PMID:20309628 RGD:11035278 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G TP53 tumor protein p53 susceptibility IAGP associated with Small Cell Lung Carcinoma;DNA:SNP:: rs1042522(human) RGD PMID:24732641 RGD:11073715 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G UGT1A1 UDP glucuronosyltransferase family 1 member A1 susceptibility
treatment
IAGP associated with neoplasms;DNA:polymorphism, repeat:promoter:-3156G>A, TA (human)
associated with Carcinoma, Non-Small-Cell Lung; DNA:repeat:promoter:(TA)
associated with Genital Neoplasms, Female;DNA:polymorphisms: :
associated with Adenocarcinoma, Colorectal;DNA:repeat:promoter:(TA) (rs8175347)
associated with Esophageal Neoplasms,Stomach Neoplasm;DNA:repeat:promoter:(TA)
RGD PMID:15007088 PMID:16636344 PMID:24932285 PMID:20177420 PMID:23783485 RGD:10768826, RGD:10769339, RGD:10768867, RGD:10769334, RGD:10769336 NCBI chr 2:233,760,270...233,773,300
Ensembl chr 2:233,760,270...233,773,300
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      hematopoietic system disease 4988
        leukocyte disease 1470
          leukopenia 633
            agranulocytosis 586
              Acquired Agranulocytosis 26
                Drug-Induced Agranulocytosis + 26
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Hemic and Lymphatic Diseases 5702
        hematopoietic system disease 4988
          leukocyte disease 1470
            leukopenia 633
              agranulocytosis 586
                Acquired Agranulocytosis 26
                  Drug-Induced Agranulocytosis + 26
paths to the root