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: Drug-induced Neutropenia
Accession: DOID:9004486
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Definition: A significant reduction in NEUTROPHIL count associated with CHEMOTHERAPY or other drug treatment.
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Abcb1a
ATP-binding cassette, sub-family B member 1A
susceptibility
ISO
associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP: :2677G>T(human) associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNPs:rs1045642,rs1128503(human) Breast Neoplasms;DNA:SNP: :3435 C>T(human)
RGD
PMID:17534875 PMID:25007187 PMID:22271208
RGD:11080964 , RGD:11080979 , RGD:11081001
NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575
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Abcc2
ATP-binding cassette, sub-family member 2
susceptibility no_association
ISO
associated with neoplasm;DNA:SNP:rs12762549(human)
RGD
PMID:18294295 PMID:23188068
RGD:11080980 , RGD:11080999
NCBI chr19:43,770,747...43,826,771
Ensembl chr19:43,770,631...43,829,179
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Csf3
colony stimulating factor 3 (granulocyte)
treatment
ISO
associated with Leukemia, Hairy Cell; associated with Hepatitis C, Chronic;
RGD
PMID:2461131 PMID:17660602
RGD:11039035 , RGD:11039036
NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
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Cyp2c29
cytochrome P450, family 2, subfamily c, polypeptide 29
susceptibility
ISO
associated with Ovarian Neoplasms: DNA:polymorphism: :
RGD
PMID:21702053
RGD:11353800
NCBI chr19:39,275,541...39,319,157
Ensembl chr19:39,257,849...39,319,157
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Cyp3a13
cytochrome P450, family 3, subfamily a, polypeptide 13
susceptibility
ISO
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 5:137,891,195...137,923,872
Ensembl chr 5:137,891,194...137,919,881
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Dpyd
dihydropyrimidine dehydrogenase
treatment no_association
ISO
associated with Neoplasms;DNA:splice-site mutation:intron:IVS14+1G>A (human) associated with Colorectal Neoplasms;DNA:SNPs: :rs1801159 (1896T>C), rs17376848 (human) DNA:splice-site mutation, missense mutations: :multiple associated with Neoplasms;DNA:missense mutation: :p.M166V (496A>G) (human) associated with Neoplasms;DNA:missense mutations: :multiple
RGD
PMID:12209976 PMID:23942539 PMID:11156223 PMID:19473056 PMID:19473056
RGD:11251736 , RGD:11251737 , RGD:11251738 , RGD:11098817 , RGD:11098817
NCBI chr 3:118,355,758...119,226,573
Ensembl chr 3:118,355,778...119,226,573
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Ercc1
excision repair cross-complementing rodent repair deficiency, complementation group 1
treatment
ISO
associated with Colorectal Neoplasms;DNA:SNP
RGD
PMID:23543295
RGD:11340199
NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449
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Ercc2
excision repair cross-complementing rodent repair deficiency, complementation group 2
treatment
ISO
associated with Urinary Bladder Neoplasms;DNA:SNP: :p.K751Q (rs13181) (human)
RGD
PMID:21047201
RGD:11098572
NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619
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Ercc6
excision repair cross-complementing rodent repair deficiency, complementation group 6
treatment
ISO
associated with lung non-small cell carcinoma;DNA:SNP:intron: (rs4253212) (human)
RGD
PMID:28924235
RGD:153323316
NCBI chr14:32,235,248...32,302,947
Ensembl chr14:32,235,478...32,302,947
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Fcgr4
Fc receptor, IgG, low affinity IV
ISO
associated with Lymphoma, Large B-Cell, Diffuse;DNA:polymorphism: :p.V158F (human) associated with Non-Hodgkin lymphoma;DNA:polymorphism: :p.V158F (human) associated with Lymphoma, B-Cell;DNA:polymorphism: :p.V158F (human)
RGD
PMID:21883784 PMID:19933905 PMID:20730791
RGD:11344964 , RGD:11344973 , RGD:11352256
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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Gstp1
glutathione S-transferase, pi 1
susceptibility
ISO
DNA:SNP:cds:p.I105V (rs1695) (human)
RGD
PMID:23812950
RGD:10755330
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
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Gstt1
glutathione S-transferase, theta 1
susceptibility
ISO
associated with breast cancer
RGD
PMID:23812950
RGD:10755330
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
ISO
RGD
PMID:27400856
RGD:14928329
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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Il1a
interleukin 1 alpha
treatment
ISO
associated with Carcinoma, Non-Small-Cell Lung
RGD
PMID:7666093
RGD:11051963
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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Mdm2
transformed mouse 3T3 cell double minute 2
susceptibility
ISO
associated with Small Cell Lung Carcinoma;DNA:SNP::rs2279744(human)
RGD
PMID:24732641
RGD:11073715
NCBI chr10:117,524,780...117,546,663
Ensembl chr10:117,524,780...117,546,663
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Pold1
polymerase (DNA directed), delta 1, catalytic subunit
treatment
ISO
associated with lung non-small cell carcinoma; DNA:SNPs:exon, introns: (rs1726801, rs1673041, rs3219341) (human)
RGD
PMID:28924235
RGD:153323316
NCBI chr 7:44,182,168...44,198,239
Ensembl chr 7:44,182,170...44,198,273
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Slco1b2
solute carrier organic anion transporter family, member 1b2
susceptibility no_association
ISO
associated with neoplasm;DNA:SNP:rs11045585(human) associated with neoplasm;DNA:SNP: rs11045585(human)
RGD
PMID:18294295 PMID:23188068
RGD:11080980 , RGD:11080999
NCBI chr 6:141,575,178...141,632,372
Ensembl chr 6:141,575,244...141,632,372
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Sod2
superoxide dismutase 2, mitochondrial
susceptibility
ISO
associated with female breast cancer;DNA:missense mutation:cds:p.V16A (rs4880) (human)
RGD
PMID:20309628
RGD:11035278
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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Trp53
transformation related protein 53
susceptibility
ISO
associated with Small Cell Lung Carcinoma;DNA:SNP:: rs1042522(human)
RGD
PMID:24732641
RGD:11073715
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Ugt1a1
UDP glucuronosyltransferase 1 family, polypeptide A1
susceptibility treatment
ISO
associated with neoplasms;DNA:polymorphism, repeat:promoter:-3156G>A, TA (human) 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) associated with Carcinoma, Non-Small-Cell Lung; DNA:repeat:promoter:(TA)
RGD
PMID:15007088 PMID:24932285 PMID:20177420 PMID:23783485 PMID:16636344
RGD:10768826 , RGD:10768867 , RGD:10769334 , RGD:10769336 , RGD:10769339
NCBI chr 1:88,139,681...88,147,724
Ensembl chr 1:88,139,681...88,146,719
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Ace
angiotensin I converting enzyme
severity
ISO
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 chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Cyp3a13
cytochrome P450, family 3, subfamily a, polypeptide 13
susceptibility
ISO
associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G (human)
RGD
PMID:19332043
RGD:11353804
NCBI chr 5:137,891,195...137,923,872
Ensembl chr 5:137,891,194...137,919,881
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Fcgr4
Fc receptor, IgG, low affinity IV
treatment
ISO
associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human)
RGD
PMID:27282998
RGD:11344967
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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Gstp1
glutathione S-transferase, pi 1
susceptibility
ISO
DNA:polymorphism: : rs1695(human)
RGD
PMID:25008867
RGD:10755412
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
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Itpa
inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
ISO
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human)
RGD
PMID:18685564
RGD:10766478
NCBI chr 2:130,506,702...130,523,534
Ensembl chr 2:130,509,530...130,523,534
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Mbl2
mannose-binding lectin (protein C) 2
susceptibility disease progression
ISO
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 chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Mdm2
transformed mouse 3T3 cell double minute 2
susceptibility
ISO
associated with Breast Neoplasms;DNA:SNP:cds:309T>G(rs2279744)(human)
RGD
PMID:21706156
RGD:11073725
NCBI chr10:117,524,780...117,546,663
Ensembl chr10:117,524,780...117,546,663
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Trp53
transformation related protein 53
susceptibility
ISO
associated with Breast Neoplasms;DNA:SNP:cds: p.R72P(rs1042522)(human)
RGD
PMID:21706156
RGD:11073725
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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