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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:agranulocytosis
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Accession:DOID:12987 term browser browse the term
Definition:A leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm³ of blood. (DO)
Synonyms:exact_synonym: Agranulocytoses;   Granulocytopenia;   Granulocytopenias;   granulocytopenic disorder;   granulopenia
 primary_id: MESH:D000380
 xref: NCI:C2863
For additional species annotation, visit the Alliance of Genome Resources.



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agranulocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8120554 PMID:11732872 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:15999287 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Il1b interleukin 1 beta treatment ISO RGD PMID:1331350 RGD:10450883 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Nqo2 N-ribosyldihydronicotinamide:quinone reductase 2 ISO associated with schizophrenia;DNA:SNPs:exons, intron:multiple
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:14617031 PMID:14617031 RGD:11073696 NCBI chr17:30,909,482...30,938,725
Ensembl chr17:30,909,187...30,938,320
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:SNP: :6672G>C (human) RGD PMID:20868635 RGD:11041752 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb caseinolytic mitochondrial matrix peptidase chaperone subunit B ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25595726 PMID:25597510 PMID:25597511 More... NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
JBrowse link
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 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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
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 chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa treatment ISO associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human) RGD PMID:27282998 RGD:11344967 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism: : rs1695(human) RGD PMID:25008867 RGD:10755412 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Itpa inosine triphosphatase ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human) RGD PMID:18685564 RGD:10766478 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
JBrowse link
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 1:228,016,439...228,024,736 JBrowse link
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 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
JBrowse link
G Tp53 tumor protein p53 susceptibility ISO associated with Breast Neoplasms;DNA:SNP:cds: p.R72P(rs1042522)(human) RGD PMID:21706156 RGD:11073725 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
cyclic hematopoiesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO Neutropenia, cyclic OMIA PMID:347941 PMID:351627 PMID:1893969 PMID:4430726 PMID:4796766 More... NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
JBrowse link
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar Annotator: match by OMIM:162800
DNA:mutations: :
OMIM
ClinVar
RGD
PMID:9536098 PMID:10581030 PMID:11001877 PMID:11675333 PMID:14962902 More... RGD:10450519 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
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 ISO associated with Graves Disease;
associated with Multiple Myeloma;
RGD PMID:15785251 PMID:8935143 RGD:11039034, RGD:11039041 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Il1b interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO associated with Leukemia;protein:decreased expression:serum: RGD PMID:8698137 RGD:11528539 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Nat2 N-acetyltransferase 2 ISO associated with Inflammation; RGD PMID:10739170 RGD:11532771 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
JBrowse link
Drug-induced Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A susceptibility ISO 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 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
JBrowse link
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 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
JBrowse link
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 chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
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 chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase treatment
no_association
ISO 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 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
JBrowse link
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 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
JBrowse link
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 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa ISO 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 chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:SNP:cds:p.I105V (rs1695) (human) RGD PMID:23812950 RGD:10755330 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO associated with breast cancer RGD PMID:23812950 RGD:10755330 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Il1a interleukin 1 alpha treatment ISO associated with Carcinoma, Non-Small-Cell Lung RGD PMID:7666093 RGD:11051963 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Mdm2 MDM2 proto-oncogene susceptibility ISO associated with Small Cell Lung Carcinoma;DNA:SNP::rs2279744(human) RGD PMID:24732641 RGD:11073715 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:27400856 RGD:14928329 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
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 4:174,551,463...174,619,988
Ensembl chr 4:174,551,480...174,619,981
JBrowse link
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 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Tp53 tumor protein p53 susceptibility ISO associated with Small Cell Lung Carcinoma;DNA:SNP:: rs1042522(human) RGD PMID:24732641 RGD:11073715 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 susceptibility
treatment
ISO associated with neoplasms;DNA:polymorphism, repeat:promoter:-3156G>A, TA (human)
associated with Carcinoma, Non-Small-Cell Lung; DNA:repeat:promoter:(TA)
associated with Esophageal Neoplasms,Stomach Neoplasm;DNA:repeat:promoter:(TA)
associated with Adenocarcinoma, Colorectal;DNA:repeat:promoter:(TA) (rs8175347)
associated with Genital Neoplasms, Female;DNA:polymorphisms: :
RGD PMID:15007088 PMID:16636344 PMID:23783485 PMID:20177420 PMID:24932285 RGD:10768826, RGD:10769339, RGD:10769336, RGD:10769334, RGD:10768867 NCBI chr 9:88,801,344...88,808,465 JBrowse link
Dursun Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pc3 glucose 6 phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Dursun syndrome ClinVar PMID:19011569 PMID:19118303 PMID:20799326 PMID:25491320 PMID:25741868 More... NCBI chr10:87,146,987...87,151,223
Ensembl chr10:87,146,901...87,151,221
JBrowse link
Febrile Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO associated with Hematologic Diseases;protein:increased expression:plasma (human) RGD PMID:23369970 RGD:11528559 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
immunodeficiency 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality OMIM
ClinVar
PMID:27913302 NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
JBrowse link
Lazy Leukocyte Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr1 WD repeat domain 1 ISO ClinVar Annotator: match by term: Lazy leukocyte syndrome
ClinVar Annotator: match by term: WDR1 deficiency
ClinVar
OMIM
PMID:205284 PMID:27557945 PMID:27994071 PMID:29751004 NCBI chr14:72,258,032...72,291,768
Ensembl chr14:72,257,956...72,291,766
JBrowse link
neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16950614 PMID:25007187 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
JBrowse link
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO RGD PMID:12125811 RGD:1578409 NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
JBrowse link
G C5 complement C5 ISO
IDA
RGD PMID:10516626 PMID:10188960 RGD:5130180, RGD:1600665 NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
JBrowse link
G C5ar1 complement C5a receptor 1 IDA RGD PMID:10516626 RGD:5130180 NCBI chr 1:76,948,622...76,959,826 JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:7875148 PMID:11264156 PMID:10832225 RGD:10449510 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:7524159 PMID:7529132 PMID:7543699 PMID:7688884 PMID:9740541 More... RGD:11039039 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12562666 NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
JBrowse link
G Elane elastase, neutrophil expressed ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neutropenia
CTD
ClinVar
PMID:10581030 PMID:17436313 PMID:20049848 PMID:23463630 PMID:28492532 More... NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO DNA:SNP:cds:p.R131H (human) RGD PMID:11295474 RGD:11040988 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Fcgr2b Fc fragment of IgG receptor IIb ISO CTD Direct Evidence: marker/mechanism CTD PMID:10848805 NCBI chr13:83,191,253...83,207,776
Ensembl chr13:83,193,163...83,207,778
JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor ISO DNA:mutation:exon: RGD PMID:11810106 PMID:22684987 RGD:11040449, RGD:11040456 NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO RGD PMID:19555437 RGD:10450844 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 PMID:32581362 NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714
JBrowse link
G Hoxd13 homeo box D13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Jagn1 jagunal homolog 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129144 PMID:25129145 NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288
JBrowse link
G Mki67 marker of proliferation Ki-67 ISO protein:increased expression:blood, T cell RGD PMID:22092365 RGD:6483522 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19391036 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 1:156,494,423...156,591,415
Ensembl chr 1:156,494,423...156,591,415
JBrowse link
G Ptafr platelet-activating factor receptor treatment IMP RGD PMID:3011900 RGD:10043179 NCBI chr 5:144,765,770...144,795,057
Ensembl chr 5:144,765,976...144,795,251
JBrowse link
G Rps14 ribosomal protein S14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr18:54,227,854...54,232,638
Ensembl chr18:54,227,854...54,233,166
JBrowse link
G Smarcd2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28369036 NCBI chr10:91,193,752...91,202,817
Ensembl chr10:91,193,752...91,204,341
JBrowse link
G Stat2 signal transducer and activator of transcription 2 susceptibility ISO associated with Chronic Hepatitis C;DNA:SNP:intron 5:g.4757G>T (human) RGD PMID:19200137 RGD:41789633 NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967
JBrowse link
G Stat3 signal transducer and activator of transcription 3 IAGP associated with T-cell large granular lymphocyte leukemia RGD PMID:22591296 RGD:6892936 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:15986200 RGD:1580321 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652058 NCBI chr15:44,839,818...44,867,582 JBrowse link
G Tpmt thiopurine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18662289 NCBI chr17:17,644,088...17,662,709
Ensembl chr17:17,644,173...17,662,709
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17549067 NCBI chr 9:88,801,344...88,808,465 JBrowse link
G Vps16 VPS16 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 3:117,622,534...117,644,041
Ensembl chr 3:117,622,542...117,646,441
JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
JBrowse link
Nonimmune Chronic Idiopathic Neutropenia, Adult term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfi1 growth factor independent 1 transcriptional repressor ISO ClinVar Annotator: match by term: Neutropenia, nonimmune chronic idiopathic, of adults
ClinVar Annotator: match by OMIM:607847
OMIM
ClinVar
PMID:11807637 PMID:12778173 PMID:25741868 NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:22133767 RGD:11038657 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
poikiloderma with neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usb1 U6 snRNA biogenesis phosphodiesterase 1 ISO ClinVar Annotator: match by term: Poikiloderma with neutropenia ClinVar
OMIM
PMID:11737690 PMID:16199547 PMID:18925663 PMID:20004881 PMID:20503306 More... NCBI chr19:9,689,313...9,702,306
Ensembl chr19:9,689,316...9,702,302
JBrowse link
Severe Chronic Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3r colony stimulating factor 3 receptor ISO RGD PMID:9639496 RGD:10450484 NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
JBrowse link
severe congenital neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3r colony stimulating factor 3 receptor disease_progression ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar
RGD
PMID:24753537 PMID:26324699 PMID:28492532 PMID:32581362 PMID:16985178 More... RGD:10450485, RGD:10450533 NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
JBrowse link
G Elane elastase, neutrophil expressed ISO mRNA:decreased expression:myeloid CD33+ cell:
DNA:mutations: :
DNA:mutation:intron:c.597+1G>A (human)
RGD PMID:10581030 PMID:19620402 PMID:21425445 PMID:24616599 RGD:1598891, RGD:10450525, RGD:10450519, RGD:10450514 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
JBrowse link
G Fcho1 FCH and mu domain containing endocytic adaptor 1 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar PMID:30822429 PMID:32098969 NCBI chr16:18,413,452...18,430,795
Ensembl chr16:18,413,363...18,435,104
JBrowse link
G G6pc3 glucose 6 phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar NCBI chr10:87,146,987...87,151,223
Ensembl chr10:87,146,901...87,151,221
JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor ISO
ISS
ClinVar Annotator: match by term: Severe congenital neutropenia
OMIM:202700 | OMIM:300299 | OMIM:610738 | OMIM:612541 | OMIM:613107 | OMIM:615285 | OMIM:616022
ClinVar
MouseDO
NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
JBrowse link
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714
JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar PMID:25129144 PMID:25741868 PMID:28492532 PMID:30044346 NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288
JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO ClinVar Annotator: match by term: congenital neutropenia ClinVar PMID:24753205 NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742
JBrowse link
severe congenital neutropenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Neutropenia, severe congenital 1, autosomal dominant
ClinVar Annotator: match by OMIM:202700
OMIM
ClinVar
PMID:10581030 PMID:11001877 PMID:11675333 PMID:14962902 PMID:15657182 More... NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO ClinVar Annotator: match by term: NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT ClinVar PMID:24753205 NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742
JBrowse link
severe congenital neutropenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfi1 growth factor independent 1 transcriptional repressor ISO ClinVar Annotator: match by term: Severe congenital neutropenia 2, autosomal dominant OMIM
ClinVar
PMID:11807637 PMID:12778173 PMID:20560965 PMID:24033266 PMID:25741868 More... NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
JBrowse link
severe congenital neutropenia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Kostmann syndrome
ClinVar Annotator: match by term: Severe congenital neutropenia 3, autosomal recessive
ClinVar Annotator: match by OMIM:610738
OMIM
ClinVar
PMID:10581030 PMID:11519978 PMID:16199547 PMID:17187068 PMID:18055975 More... NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714
JBrowse link
G Vps45 vacuolar protein sorting 45 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:23599270 NCBI chr 2:183,555,919...183,616,312
Ensembl chr 2:183,555,921...183,616,295
JBrowse link
severe congenital neutropenia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pc3 glucose 6 phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Severe congenital neutropenia 4, autosomal recessive
ClinVar Annotator: match by OMIM:612541
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:19118303 PMID:19775295 PMID:20616219 More... NCBI chr10:87,146,987...87,151,223
Ensembl chr10:87,146,901...87,151,221
JBrowse link
severe congenital neutropenia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps45 vacuolar protein sorting 45 homolog ISO ClinVar Annotator: match by term: Severe congenital neutropenia 5, autosomal recessive
ClinVar Annotator: match by OMIM:615285
OMIM
ClinVar
PMID:23599270 PMID:23738510 PMID:25741868 PMID:28492532 PMID:30294941 NCBI chr 2:183,555,919...183,616,312
Ensembl chr 2:183,555,921...183,616,295
JBrowse link
severe congenital neutropenia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by OMIM:616022
ClinVar Annotator: match by term: Severe congenital neutropenia 6, autosomal recessive
DNA:missense mutations: :multiple
DNA:missense mutation:exon:p.H44Y (human)
ClinVar
OMIM
RGD
PMID:9536098 PMID:17576681 PMID:25129144 PMID:25741868 PMID:28492532 More... RGD:11531099, RGD:11531098 NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288
JBrowse link
severe congenital neutropenia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3r colony stimulating factor 3 receptor ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 7, autosomal recessive ClinVar
OMIM
PMID:9536098 PMID:10449521 PMID:16199547 PMID:17576681 PMID:23604229 More... NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
JBrowse link
severe congenital neutropenia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srp54a signal recognition particle 54A ISO ClinVar Annotator: match by term: NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT ClinVar
OMIM
PMID:28972538 PMID:29914977 NCBI chr 6:72,587,582...72,645,154
Ensembl chr 6:72,587,605...72,625,189
JBrowse link
X-linked dyserythropoietic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES OMIM
ClinVar
PMID:15895080 PMID:16783379 PMID:20301538 PMID:20729467 PMID:22706301 More... NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530
JBrowse link
X-linked severe congenital neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Severe congenital neutropenia X-linked ClinVar PMID:24033266 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar Annotator: match by term: Severe congenital neutropenia X-linked
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:300299
OMIM
ClinVar
CTD
PMID:3284030 PMID:7579329 PMID:7579347 PMID:7753869 PMID:8069912 More... NCBI chr  X:14,405,096...14,413,850
Ensembl chr  X:14,405,124...14,413,849
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      hematopoietic system disease 1910
        leukocyte disease 517
          leukopenia 127
            agranulocytosis 63
              Acquired Agranulocytosis + 24
              immunodeficiency 59 1
              neutropenia + 59
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      Hemic and Lymphatic Diseases 2329
        hematopoietic system disease 1910
          leukocyte disease 517
            leukopenia 127
              agranulocytosis 63
                Acquired Agranulocytosis + 24
                immunodeficiency 59 1
                neutropenia + 59
paths to the root