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 Agranulocytosis
Accession: DOID:9001142
browse the term
Definition: Agranulocytosis related to ingestion of a specific medication (e.g.:clozapine).
Synonyms: narrow_synonym: clozapine-induced agranulocytosis
primary_id: RDO:9001180
G
Csf3
colony stimulating factor 3
treatment
ISO
associated with Graves Disease; associated with Multiple Myeloma;
RGD
PMID:15785251 PMID:8935143
RGD:11039034 , RGD:11039041
NCBI chr10:84,157,485...84,159,860
Ensembl chr10:83,661,207...83,663,603
G
Il1b
interleukin 1 beta
treatment
ISO
associated with Glioblastoma;
RGD
PMID:1331350
RGD:10450883
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
G
Il1rn
interleukin 1 receptor antagonist
ISO
associated with Leukemia;protein:decreased expression:serum:
RGD
PMID:8698137
RGD:11528539
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
G
Nat2
N-acetyltransferase 2
ISO
associated with Inflammation;
RGD
PMID:10739170
RGD:11532771
NCBI chr16:26,974,874...27,005,191
Ensembl chr16:22,208,194...22,238,520
G
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 chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
G
Cyp3a9
cytochrome P450, family 3, subfamily a, polypeptide 9
susceptibility
ISO
associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G (human)
RGD
PMID:19332043
RGD:11353804
NCBI chr12:21,919,955...21,960,160
Ensembl chr12:16,806,207...16,846,422
G
Fcgr3a
Fc gamma receptor 3A
treatment
ISO
associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human)
RGD
PMID:27282998
RGD:11344967
NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921
G
Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:polymorphism: : rs1695(human)
RGD
PMID:25008867
RGD:10755412
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
G
Itpa
inosine triphosphatase
ISO
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human)
RGD
PMID:18685564
RGD:10766478
NCBI chr 3:138,338,549...138,350,329
Ensembl chr 3:117,885,099...117,897,249
G
Mbl2
mannose binding lectin 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 chr 1:237,429,873...237,465,567
G
Mdm2
MDM2 proto-oncogene
susceptibility
ISO
associated with Breast Neoplasms;DNA:SNP:cds:309T>G(rs2279744)(human)
RGD
PMID:21706156
RGD:11073725
NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:53,290,664...53,314,915
G
Tp53
tumor protein p53
susceptibility
ISO
associated with Breast Neoplasms;DNA:SNP:cds: p.R72P(rs1042522)(human)
RGD
PMID:21706156
RGD:11073725
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
G
Abcb1a
ATP binding cassette subfamily 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 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709
G
Abcc2
ATP binding cassette subfamily C member 2
susceptibility no_association
ISO
associated with neoplasm;DNA:SNP:rs12762549(human)
RGD
PMID:18294295 PMID:23188068
RGD:11080980 , RGD:11080999
NCBI chr 1:252,613,875...252,672,459
Ensembl chr 1:242,664,657...242,723,238
G
Csf3
colony stimulating factor 3
treatment
ISO
associated with Leukemia, Hairy Cell; associated with Hepatitis C, Chronic;
RGD
PMID:2461131 PMID:17660602
RGD:11039035 , RGD:11039036
NCBI chr10:84,157,485...84,159,860
Ensembl chr10:83,661,207...83,663,603
G
Cyp2c79
cytochrome P450, family 2, subfamily c, polypeptide 79
susceptibility
ISO
associated with Ovarian Neoplasms: DNA:polymorphism: :
RGD
PMID:21702053
RGD:11353800
G
Cyp3a9
cytochrome P450, family 3, subfamily a, polypeptide 9
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 chr12:21,919,955...21,960,160
Ensembl chr12:16,806,207...16,846,422
G
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 2:209,293,902...210,159,777
Ensembl chr 2:206,609,122...207,474,982
G
Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
treatment
ISO
associated with Colorectal Neoplasms;DNA:SNP
RGD
PMID:23543295
RGD:11340199
NCBI chr 1:88,099,308...88,135,966
Ensembl chr 1:78,996,390...79,007,963
G
Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
treatment
ISO
associated with Urinary Bladder Neoplasms;DNA:SNP: :p.K751Q (rs13181) (human)
RGD
PMID:21047201
RGD:11098572
NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:79,033,326...79,047,102
G
Ercc6
ERCC excision repair 6, chromatin remodeling factor
treatment
ISO
associated with lung non-small cell carcinoma;DNA:SNP:intron: (rs4253212) (human)
RGD
PMID:28924235
RGD:153323316
NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,765,013...7,835,587
G
Fcgr3a
Fc gamma receptor 3A
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 chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921
G
Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:SNP:cds:p.I105V (rs1695) (human)
RGD
PMID:23812950
RGD:10755330
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
G
Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
associated with breast cancer
RGD
PMID:23812950
RGD:10755330
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585
G
Il1a
interleukin 1 alpha
treatment
ISO
associated with Carcinoma, Non-Small-Cell Lung
RGD
PMID:7666093
RGD:11051963
NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822
G
Mdm2
MDM2 proto-oncogene
susceptibility
ISO
associated with Small Cell Lung Carcinoma;DNA:SNP::rs2279744(human)
RGD
PMID:24732641
RGD:11073715
NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:53,290,664...53,314,915
G
Pold1
DNA polymerase 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 1:104,161,984...104,178,074
Ensembl chr 1:95,025,499...95,036,465
G
RT1-Bb
RT1 class II, locus Bb
ISO
RGD
PMID:27400856
RGD:14928329
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
G
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 4:176,282,577...176,355,557
Ensembl chr 4:174,551,480...174,619,981
G
Sod2
superoxide dismutase 2
susceptibility
ISO
associated with female breast cancer;DNA:missense mutation:cds:p.V16A (rs4880) (human)
RGD
PMID:20309628
RGD:11035278
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189
G
Tp53
tumor protein p53
susceptibility
ISO
associated with Small Cell Lung Carcinoma;DNA:SNP:: rs1042522(human)
RGD
PMID:24732641
RGD:11073715
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
G
Ugt1a1
UDP glucuronosyltransferase family 1 member 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 9:96,249,143...96,256,264
Ensembl chr 9:88,713,184...88,808,465
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all