MCID: APL001
MIFTS: 83

Aplastic Anemia malady

Immune diseases, Blood diseases, Bone diseases categories

Summaries for Aplastic Anemia

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8Disease Ontology, 42NIH Rare Diseases, 33MedlinePlus, 63Wikipedia, 46OMIM, 32MalaCards
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MedlinePlus:33 Aplastic anemia is a rare but serious blood disorder. if you have it, your bone marrow doesn't make enough new blood cells. causes include being exposed to toxic substances, such as pesticides, arsenic, and benzene radiation therapy and chemotherapy for cancer certain medicines infections such as hepatitis, epstein-barr virus, or hiv autoimmune disorders certain inherited conditions in many people, the cause is unknown. your doctor will diagnose aplastic anemia based on your medical and family histories, a physical exam, and test results. once your doctor knows the cause and severity of the condition, he or she can create a treatment plan for you. treatments include blood transfusions, blood and marrow stem cell transplants, and medicines. nih: national heart, lung, and blood institute

MalaCards: Aplastic Anemia, also known as anemia aplastic, is related to hemoglobinuria and leukemia. An important gene associated with Aplastic Anemia is IFNG (interferon, gamma), and among its related pathways are PEDF Induced Signaling and Hematopoietic cell lineage. The drug carboplatin and the compounds methylcellulose and thymidine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and t cells, and related mouse phenotypes are hematopoietic system and cellular.

Disease Ontology:8 An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.

NIH Rare Diseases:42 Aplastic anemia is failure of the bone marrow to make enough blood cells. all blood cell types are affected. it can be caused by injury to blood stem cells due to exposure to certain drugs, chemotherapy, congenital disorders, drug therapy to suppress the immune system, pregnancy, radiation therapy, or toxins such as benzene or arsenic. when the cause is unknown, it is referred to as idiopathic aplastic anemia. in about half of all cases, no cause can be found. the condition can be acute or chronic. last updated: 8/21/2009

Wikipedia:63 Aplastic anemia is a disease in which the bone marrow, and the blood stem cells that reside there, are... more...

Description from OMIM:46 609135,614742,614743

Aliases & Classifications for Aplastic Anemia

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 10DISEASES, 33MedlinePlus, 30LifeMap Discovery™, 60UMLS, 22GTR, 44Novoseek, 48Orphanet, 39NCIt, 56SNOMED-CT, 34MeSH, 27ICD9CM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Immune diseases, Blood diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

48
idiopathic aplastic anemia:
Prevalence: 1-9/1000000; Age of onset: Adulthood; Age of death: Adult


Aliases & Descriptions:

aplastic anemia 8 9 42 46 10 33 30 60
anemia aplastic 42 22 44
idiopathic aplastic anemia 42 48
bone marrow diseases 33 60
aplastic anemia, idiopathic 60
aplastic anemia idiopathic 42
secondary aplastic anemia 42
bone marrow failure 48


External Ids:

Disease Ontology8 DOID:12449
NCIt39 C2870
MeSH34 D000741
ICD9CM27 284.9
MESH via Orphanet35 C538494
ICD10 via Orphanet26 D61.0
SNOMED-CT via Orphanet57 191256002
UMLS via Orphanet61 C0348890

Related Diseases for Aplastic Anemia

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17GeneCards, 18GeneDecks
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Diseases in the Aplastic Anemia family:

Aplastic Anemia, Ifng-Related

Diseases related to Aplastic Anemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 278)
idRelated DiseaseScoreTop Affiliating Genes
1hemoglobinuria31.2PIGA
2leukemia31.1GATA2, CSF3, CSF2, CSF2RA, IFNG, PIGA
3acute leukemia30.9CSF2, CSF3, GATA2, FLT3LG, EPO, IL3
4dyskeratosis congenita30.8DKC1, TERC
5deficiency anemia30.7CSF2, CSF3, PIGA, EPO, IL3, KITLG
6myeloid leukemia30.6CSF2, CSF3, GATA2, IL3, KITLG, THPO
7pancytopenia30.5DKC1, EPO, IL3, THPO, CSF3, CSF2
8graft versus host disease30.5IFNG, CSF2, CSF3, IL3
9purpura30.5THPO
10neutropenia30.5CSF2, CSF3, EPO, SBDS, IL3, KITLG
11hepatitis c30.5THPO, IFNG
12pulmonary fibrosis30.4TERT, TERC
13thrombocytopenia30.4CSF2, CSF3, THPO, KITLG, IL3, EPO
14fanconi's anemia30.4DKC1, IL3, KITLG, THPO, TERC
15hepatitis b30.4IFNG, TERT
16aspergillosis30.4IFNG
17acute lymphocytic leukemia30.2CSF2, CSF3, GATA2, IL3, KITLG, THPO
18colon cancer30.2TERT, TERC
19glioblastoma multiforme30.2TERC, TERT
20diamond-blackfan anemia30.2EPO, IL3
21candidiasis30.2IFNG
22iron deficiency anemia30.2THPO, EPO
23myelodysplastic syndromes30.0IL3, KITLG, THPO, TERC, EPO, FLT3LG
24severe congenital neutropenia autosomal recessive 330.0CSF2, CSF3, IL3
25felty's syndrome30.0CSF2, CSF3, IL3
26diphtheria30.0CSF2, IL3
27liver cirrhosis30.0TERC, THPO
28hemophagocytic lymphohistiocytosis30.0PRF1
29congenital amegakaryocytic thrombocytopenia30.0IL3, THPO
30chronic myeloid leukemia30.0CSF2RA, CSF2, CSF3, GATA2, EPO, IL3
31melanoma30.0IFNG, CSF2, FLT3LG, PRF1, KITLG, TERT
32severe congenital neutropenia30.0CSF2, CSF3, IL3, KITLG, THPO
33myeloma30.0CSF2, CSF3, EPO, IL3, KITLG
34rheumatoid arthritis30.0TERT, THPO, CSF2, IFNG
35colorectal cancer30.0TERC, TERT, KITLG
36arthritis30.0CSF2, IFNG
37multiple myeloma30.0CSF3
38pancreatitis30.0KITLG
39myelofibrosis30.0EPO, THPO
40hemosiderosis30.0EPO
41hepatitis10.7
42hepatitis a10.7
43acute myeloid leukemia10.4
44pure red-cell aplasia10.4
45inherited bone marrow failure syndromes10.3
46cerebritis10.3
47hemochromatosis10.3
48congenital hypoplastic anemia10.3
49fasciitis10.3
50thymoma10.3

Graphical network of the top 20 diseases related to Aplastic Anemia:



Diseases related to aplastic anemia

Clinical Features for Aplastic Anemia

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46OMIM
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Clinical features from OMIM:

609135,614742,614743

Clinical synopsis from OMIM:

614743

Drugs & Therapeutics for Aplastic Anemia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
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Genetic Tests for Aplastic Anemia

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22GTR
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Genetic tests related to Aplastic Anemia:

id Genetic test Affiliating Genes
1 Aplastic Anemia22

Anatomical Context for Aplastic Anemia

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32MalaCards
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MalaCards organs/tissues related to Aplastic Anemia:

32
Bone, Bone marrow, T cells, Lung, Testes, Heart, Liver, Myeloid, Kidney, Colon, Skin, B cells, Monocytes, Thyroid, Endothelial, Thymus, Fetal liver

Animal Models for Aplastic Anemia or affiliated genes

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36MGI
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Publications for Aplastic Anemia

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50PubMed
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Articles related to Aplastic Anemia:

(show top 50)    (show all 856)
idTitleAuthorsYear
1
In vivo T-cell depletion with alemtuzumab in allogeneic hematopoietic stem cell transplantation: Combined results of two studies on aplastic anemia and HLA-mismatched haploidentical transplantation. (23450467)
2013
2
Haploidentical transplantation in patients with acquired aplastic anemia. (23292235)
2013
3
Prevalence of parvovirus B 19 infection in children with aplastic anemia. (23255678)
2013
4
A young adult with aplastic anemia and gray hair. (23284013)
2013
5
Total lymphoid irradiation based conditioning for hematopoietic stem cell transplantation in severe aplastic anemia. (23346535)
2012
6
Alternative donor HSCT in refractory acquired aplastic anemia: the time has come. (22646164)
2012
7
Mitochondrial DNA mutations may not be frequent in patients with aplastic anemia - Genet. Mol. Res. 11 (3): 2130-2137 "complete sequence analysis of mitochondrial DNA of aplastic anemia patients". (23315812)
2012
8
Aplastic anemia and membranous nephropathy induced by intravenous mercury. (23439491)
2012
9
Activity of alemtuzumab monotherapy in treatment-naive, relapsed, and refractory severe acquired aplastic anemia. (22067384)
2012
10
Intact survival of refractory CMV limbic encephalitis in a patient with severe aplastic anemia after unrelated bone marrow transplantation. (22430584)
2012
11
The ancestry of the HLA-DRB1*15 allele predisposes the Mexican mestizo to the development of aplastic anemia. (22580214)
2012
12
A randomized controlled study in patients with newly diagnosed severe aplastic anemia receiving antithymocyte globulin (ATG), cyclosporine, with or without G-CSF: a study of the SAA Working Party of the European Group for Blood and Marrow Transplantation. (21233311)
2011
13
Effect of busui shengxue granule (see text) on chronic aplastic anemia patients' hematopoietic adhesion molecule VLA-6/CD49f and its ligand laminin. (21977812)
2011
14
Fludarabine, cyclophosphamide, and antithymocyte globulin for matched related and unrelated allogeneic stem cell transplant in severe aplastic anemia. (20939697)
2011
15
Lentiviral gene transfer regenerates hematopoietic stem cells in a mouse model for Mpl-deficient aplastic anemia. (21289307)
2011
16
Hepatitis G virus associated aplastic anemia: a recent case from Pakistan. (21251303)
2011
17
Acceptable HLA-mismatching in unrelated donor bone marrow transplantation for patients with acquired severe aplastic anemia. (21757619)
2011
18
Clinical course of non-severe aplastic anemia in adults. (20524094)
2010
19
Psoas abscess caused by non-typhoid Salmonella in a patient with severe aplastic anemia. (20376908)
2010
20
Abnormal immunity and stem/progenitor cells in acquired aplastic anemia. (20045349)
2010
21
Nonfatal aplastic anemia associated with clopidogrel. (20538571)
2010
22
Endoscopic biliary drainage for choledocholithiasis in a patient with aplastic anemia before hematological engraftment after allogeneic transplantation. (19483403)
2009
23
Calcineurin-inhibitor-induced pain syndrome after a second allogeneic bone marrow transplantation for a child with aplastic anemia. (18785910)
2009
24
Hematogones are markedly reduced in pediatric acquired aplastic anemia: multiparametric flow cytometric analysis. (19860606)
2009
25
Significance of CD4+ CD25+ CD127(low) regulatory T cells and notch1 pathway in the pathogenesis of aplastic anemia]. (18844067)
2008
26
Genetic polymorphisms of CYP3A4, GSTT1, GSTM1, GSTP1 and NQO1 and the risk of acquired idiopathic aplastic anemia in Caucasian patients. (16079101)
2005
27
Serial morphologic observation of bone marrow in aplastic anemia in children. (16158820)
2005
28
Diazepam-binding inhibitor-related protein 1: a candidate autoantigen in acquired aplastic anemia patients harboring a minor population of paroxysmal nocturnal hemoglobinuria-type cells. (15217832)
2004
29
Distinct overexpression of Fas ligand on T lymphocytes in aplastic anemia. (16212902)
2004
30
Excessive production of tumor necrosis factor-alpha by bone marrow T lymphocytes is essential in causing bone marrow failure in patients with aplastic anemia. (15182332)
2004
31
First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability. (15338273)
2004
32
Multicenter prospective study of clonal complications in adult aplastic anemia patients following recombinant human granulocyte colony-stimulating factor (lenograstim) administration. (12627850)
2003
33
Two cases of acute myeloblastic leukemia evolving from aplastic anemia. (12841385)
2003
34
Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. (12676774)
2003
35
Increased inducible nitric oxide synthase expression and nitric oxide concentration in patients with aplastic anemia. (12601489)
2003
36
Comparative multi-color flow cytometric analysis of cell surface antigens in bone marrow hematopoietic progenitors between refractory anemia and aplastic anemia. (10713334)
2000
37
Experimental study on the effect of yiyuan shengxue capsule on gamma-interferon and tumor necrosis factor-alpha in patients with chronic aplastic anemia]. (11783173)
1999
38
Hemophagocytic syndrome due to miliary tuberculosis in the course of aplastic anemia]. (9637891)
1998
39
Granulocyte colony-stimulating factor (G-CSF) dependent hematopoiesis with monosomy 7 in a patient with severe aplastic anemia after ATG/CsA/G-CSF combined therapy. (9803678)
1998
40
Effect of androgen therapy and anemia on serum erythropoietin levels in patients with aplastic anemia and myelodysplastic syndromes. (9462542)
1998
41
Use of hematopoietic growth factors for treatment of aplastic anemia. (8971406)
1996
42
Production of hematopoietic regulatory cytokines by peripheral blood mononuclear cells in patients with aplastic anemia. (8536789)
1996
43
Combination therapy with recombinant human granulocyte colony-stimulating factor and erythropoietin in aplastic anemia. (7530405)
1995
44
A phase I/II study of interleukin-3 in patients with aplastic anemia and myelodysplasia. (8062886)
1994
45
Delayed granulocyte response to G-CSF in aplastic anemia. (7513497)
1994
46
Successful bone marrow transplantation with rabbit anti-human thymocyte globulin in aplastic anemia. Report of a case previously treated with equine anti-human lymphocyte globulin. (7919240)
1994
47
Effects of recombinant human interleukin-3 in aplastic anemia. (2207306)
1990
48
Successful second bone marrow transplantation in a patient with myositis ossificans progressiva and aplastic anemia. (6367519)
1983
49
Acute erythroblastopenia (aplastic crisis) in children with megaloblastic anemia. (13755701)
1961
50
A case of refractory anemia in a final stadium, suggestive of aplastic anemia with increased pigmentation of the skin, successfully treated with folic acid. (18881101)
1948

Genetic Variations for Aplastic Anemia

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Expression for genes affiliated with Aplastic Anemia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Aplastic Anemia

Search GEO for disease gene expression data for Aplastic Anemia.

Pathways for genes affiliated with Aplastic Anemia

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51QIAGEN, 29KEGG, 12EMD Millipore, 37NCBI BioSystems Database, 53Reactome, 4Cell Signaling Technology
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Pathways related to Aplastic Anemia according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.7IL3, EPO, FLT3LG, CSF3, CSF2, CSF2RA
210.7CSF3, FLT3LG, CSF2, CSF2RA, THPO, EPO
310.6IL3, EPO, CSF3, IFNG, CSF2RA, CSF2
4
Hide members
10.6CSF2RA, IL3, KITLG, THPO, CSF3, CSF2
5
Hide members
10.6THPO, CSF2RA, CSF2, CSF3, IL3, KITLG
6
Hide members
10.6IL3, IFNG, CSF2, PRF1
7
Hide members
10.6IFNG, IL3, TBX21, CSF2
8
Hide members
10.6IL3, IFNG, CSF2, CSF2RA
910.6IL3, GATA2, KITLG, TBX21
1010.6GAR1, NOP10, SBDS, DKC1
1110.6IFNG, PRF1, TBX21
1210.6IFNG, DKC1, TERT
1310.6CSF2, IFNG, TBX21
1410.6GATA2, TERT, EPO
15
Hide members
10.6IL3, CSF2RA, CSF2
16
Hide members
10.6CSF2RA, THPO, CSF2
1710.5DKC1, TERT
18
Hide members
10.5THPO

Compounds for genes affiliated with Aplastic Anemia

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44Novoseek, 24HMDB, 11DrugBank, 49PharmGKB, 59Tocris Bioscience, 28IUPHAR, 2BitterDB
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Compounds related to Aplastic Anemia according to GeneCards/GeneDecks:

(show top 50)    (show all 108)
idCompoundScoreTop Affiliating Genes
1methylcellulose4411.2IFNG, THPO, KITLG, IL3, EPO, FLT3LG
2thymidine44 2412.2IFNG, CSF3, CSF2, TERC, TERT, FLT3LG
35fluorouracil4411.1IFNG, CSF2, CSF3, IL3, KITLG, THPO
4pixy3214411.1THPO, EPO, IL3, KITLG, FLT3LG, CSF3
5retinoic acid44 2412.1TERC, IL3, GATA2, CSF2, TERT, THPO
6zidovudine44 1112.1TERT, CSF3, KITLG, IL3, EPO, CSF2
7carboplatin44 49 1113.1IFNG, CSF2, KITLG, THPO, IL3, CSF3
8gp 1304411.1KITLG, CSF2RA, IL3, EPO, CSF2, CSF3
9hydroxyurea44 49 1113.1EPO, IL3, GATA2, CSF2, KITLG, THPO
10amifostine44 1112.1CSF2, CSF3, EPO, IL3, KITLG, THPO
11filgrastim44 1112.1THPO, KITLG, CSF2, CSF3, EPO, IL3
12cytarabine44 49 1113.0IL3, KITLG, THPO, CSF2, EPO, CSF3
13mafosfamide4411.0CSF2, THPO, CSF3, KITLG, IL3
145-aza-2deoxycytidine4411.0TERT, THPO, KITLG, EPO, IFNG, IL3
15calcitriol44 59 11 2414.0IL3, IFNG, CSF2, EPO, TERT, KITLG
16cyclophosphamide44 49 1113.0CSF2, KITLG, FLT3LG, PIGA, CSF3, IL3
17vegf4411.0CSF2, EPO, KITLG, THPO, IFNG, FLT3LG
18ribavirin44 49 1113.0IL3, IFNG, EPO, CSF3, CSF2
19agar4411.0CSF2, IL3, KITLG, PRF1, THPO, TERC
20cisplatin44 49 59 1114.0CSF2, CSF3, EPO, IL3, KITLG, TERT
21melphalan44 1112.0EPO, IL3, CSF3, IFNG, CSF2
22gm-csf44 2812.0CSF2RA, IFNG, THPO
23pegfilgrastim44 1112.0EPO, IL3, CSF3, CSF2
244-hydroperoxycyclophosphamide4411.0CSF2, CSF3, IL3, KITLG
25rantes4411.0CSF2, CSF3, IL3, THPO, KITLG, IFNG
26etoposide44 49 59 1114.0TERC, TERT, THPO, IL3, CSF3, CSF2
27butyrate4411.0CSF2, GATA2, THPO
28pseudouridine44 2412.0GAR1, DKC1, NOP10, TERC
29daniplestim4410.9KITLG, CSF3, IL3
30carboxymethylcellulose4410.9EPO, CSF3, KITLG
31molgramostim4410.9IL3, CSF3, CSF2
32ifosfamide44 1111.9CSF3, CSF2, THPO, IL3
33rapamycin4410.9IFNG, EPO, IL3, KITLG, THPO, TERT
34mesna4410.9CSF2, IL3, CSF3
35leucovorin44 49 1112.9THPO, CSF3, CSF2, IL3
36thiotepa44 49 1112.9IL3, CSF2, CSF3
37hydrocortisone44 2 59 1113.9EPO, KITLG
38mycophenolate mofetil44 49 1112.8IFNG, CSF3, IL3, EPO
39il 114410.8CSF3, EPO, IL3
40doxorubicin44 49 1112.8TERC, TERT, IL3, CSF3, CSF2, KITLG
41imatinib44 49 1112.8EPO, IL3, THPO, CSF3, KITLG
42ara-ctp4410.8CSF3, IL3, CSF2
43cycloheximide4410.8GATA2
44anagrelide44 1111.8EPO, CSF2, THPO
45dmso4410.7TERC, CSF2, CSF3, KITLG, THPO
46lenalidomide44 1111.7CSF3, EPO, IL3
47genistein44 28 59 2 11 2415.7KITLG, IL3, CSF2, IFNG, THPO, TERT
48cyclosporin a44 28 5912.6IFNG, KITLG, CSF2, EPO, IL3, CSF3
49ganciclovir44 1111.5TERT, KITLG, CSF3, CSF2
50daunorubicin44 49 1112.3IL3, CSF3, KITLG, CSF2

GO Terms for genes affiliated with Aplastic Anemia

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16Gene Ontology
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Cellular components related to Aplastic Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00561510.7EPO, KITLG, THPO, FLT3LG, CSF3, CSF2
2extracellular regionGO:00557610.7IFNG, CSF2RA, CSF2, PRF1, EPO, IL3
3Cajal bodyGO:01503010.4NOP10, DKC1, GAR1
4telomerase holoenzyme complexGO:00569710.2TERT, DKC1

Biological processes related to Aplastic Anemia according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of DNA replicationGO:04574010.8KITLG, IL3, CSF2, EPO
2pseudouridine synthesisGO:00152210.8NOP10, GAR1, DKC1
3positive regulation of tyrosine phosphorylation of Stat5 proteinGO:04252310.8CSF2, EPO, IL3
4rRNA processingGO:00636410.8SBDS, NOP10, DKC1, GAR1
5embryonic hemopoiesisGO:03516210.8FLT3LG, IL3, KITLG
6positive regulation of cell proliferationGO:00828410.7CSF2, CSF3, IL3, EPO, FLT3LG
7positive regulation of interleukin-23 productionGO:03274710.7CSF2, IFNG
8positive regulation of isotype switching to IgG isotypesGO:04830410.6IFNG, TBX21
9positive regulation of peptidyl-tyrosine phosphorylationGO:05073110.6CSF3, IL3, KITLG
10positive regulation of Ras protein signal transductionGO:04657910.5EPO, KITLG
11cellular response to lipopolysaccharideGO:07122210.5CSF3, CSF2, IFNG
12telomere maintenance via telomeraseGO:00700410.2TERT, DKC1

Molecular functions related to Aplastic Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:00512510.6CSF2, IFNG, CSF3, FLT3LG, IL3, KITLG
2telomerase activityGO:00372010.5DKC1, TERT
3growth factor activityGO:00808310.3IL3, CSF3, KITLG, THPO, CSF2

Products for genes affiliated with Aplastic Anemia

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Sources for Aplastic Anemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet