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, Monocytes, B cells, Endothelial, Thyroid, 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
Retrospective study of alemtuzumab vs ATG-based conditioning without irradiation for unrelated and matched sibling donor transplants in acquired severe aplastic anemia: a study from the British Society for Blood and Marrow Transplantation. (23912664)
2014
2
Aplastic anemia following viral hepatitis. (24201921)
2013
3
Expression level of IL-6 secreted by bone marrow stromal cells in mice with aplastic anemia. (23853724)
2013
4
Allogeneic stem cell transplantation using alemtuzumab-containing regimens in severe aplastic anemia. (23632948)
2013
5
Renal mucormycosis in aplastic anemia: a novel presentation. (22109676)
2013
6
Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy. (23732052)
2013
7
Expression of IL-27, Th1 and Th17 in patients with aplastic anemia. (23054344)
2013
8
The use of a fludarabine-based conditioning regimen in patients with severe aplastic anemia--a retrospective analysis from three Indian centers. (24304374)
2013
9
Aplastic anemia: what have we learned from animal models and from the clinic. (24216172)
2013
10
Etiology and survival of aplastic anemia: a study based on clinical investigation. (23143628)
2012
11
Differential gene expression profile associated with the abnormality of bone marrow mesenchymal stem cells in aplastic anemia. (23144828)
2012
12
An Epstein-Barr virus-associated leukemic lymphoma in a patient treated with rabbit antithymocyte globulin and cyclosporine for hepatitis-associated aplastic anemia. (22178718)
2012
13
Polymorphisms in PDCD1 gene are not associated with aplastic anemia in Chinese Han population. (21927903)
2012
14
Allogeneic hematopoietic stem cell transplant for adults over 40 years old with acquired aplastic anemia. (22472480)
2012
15
Madurella mycetomatis infection following allogenic stem cell transplantation for aplastic anemia. (22811787)
2012
16
Frequent loss of HLA alleles associated with copy number-neutral 6pLOH in acquired aplastic anemia. (21963603)
2011
17
Management of aplastic anemia: the role of systematic reviews and meta-analyses. (21150187)
2011
18
Acute liver failure and aplastic anemia in an 11-year-old girl. (21442323)
2011
19
A novel cell-based therapy for patients with aplastic anemia. (20429786)
2010
20
Subcutaneous alemtuzumab plus cyclosporine for the treatment of aplastic anemia. (19705116)
2010
21
HLA-matched sibling transplantation with G-CSF mobilized PBSCs and BM decreases GVHD in adult patients with severe aplastic anemia. (21194460)
2010
22
Allogeneic hematopoietic stem cell transplantation is superior to immunosuppressive therapy in Indian children with aplastic anemia--a single-center analysis of 100 patients. (20201693)
2010
23
Immunophenotype of myeloid granulocytes: a pilot study for distinguishing myelodysplastic syndrome and aplastic anemia by flow cytometry. (19968721)
2010
24
Bleeding polypoid lesions in the colon as a presentation of neutropenic colitis in aplastic anemia. (19249036)
2009
25
Allopurinol-induced aplastic anemia in a patient with chronic kidney disease. (19203517)
2009
26
The role of intracellular signal pathway of mTOR/S6 in CD3+ T lymphocytes of refractory/relapsed aplastic anemia patients]. (19954658)
2009
27
Improved outcome of patients older than 30 years receiving HLA-identical sibling hematopoietic stem cell transplantation for severe acquired aplastic anemia using fludarabine-based conditioning: a comparison with conventional conditioning regimen. (19734425)
2009
28
Tacrolimus as an alternative to cyclosporine in the maintenance phase of immunosuppressive therapy for severe aplastic anemia in children. (19148946)
2009
29
Advances and challenges in infectious diseases supportive care of patients with hematologic malignancies, hematopoietic stem cell transplantation, and severe aplastic anemia. (19549573)
2009
30
Mitochondrial DNA aberrations of bone marrow cells from patients with aplastic anemia. (19119453)
2008
31
Complete hematopoietic recovery after continuous iron chelation therapy in a patient with severe aplastic anemia with secondary hemochromatosis. (18437019)
2008
32
Aplastic anemia presenting as spontaneous orbital hemorrhage. (18836941)
2008
33
Unrelated cord blood transplantation for severe aplastic anemia. (18721769)
2008
34
Increased T cell immunoglobulin mucin-3 and its ligand in acquired aplastic anemia. (18485114)
2008
35
Acute arrest of hemopoiesis mimics aplastic anemia: 23 cases report]. (18457266)
2007
36
Expression of HLA-DRB1*15 genotype in children with acquired aplastic anemia and its relation to effect of immunosuppressive therapy]. (18088469)
2007
37
Severe aplastic anemia associated with thymic carcinoma and partial recovery of hematopoiesis after thymectomy. (12715207)
2003
38
Interleukin-10 inhibits in vitro hematopoietic suppression and production of interferon-gamma and tumor necrosis factor-alpha by peripheral blood mononuclear cells from patients with aplastic anemia. (12189567)
2002
39
HLA-DR4-Ala74 beta is associated with risk and poor outcome of severe aplastic anemia. (11261326)
2001
40
Paroxysmal nocturnal hemoglobinuria (membrane defect, pathogenesis, aplastic anemia, diagnosis). (10934778)
2000
41
Elevated levels of circulating procoagulant microparticles in patients with paroxysmal nocturnal hemoglobinuria and aplastic anemia. (10233897)
1999
42
Significance of p53 overexpression in bone marrow biopsies from patients with bone marrow failure: aplastic anemia, hypocellular refractory anemia, and hypercellular refractory anemia. (9875662)
1998
43
T-cell receptor beta chain variability in bone marrow and peripheral blood in severe acquired aplastic anemia. (9215756)
1997
44
Complete remission achieved by low-dose Ara-C, aclarubicin and rhG-CSF (CAG) therapy in acute non-lymphocytic leukemia with monosomy 7 occurring after severe aplastic anemia]. (7536277)
1995
45
Stem-cell factor in aplastic anemia: in vitro expression in bone marrow stroma and fibroblast cultures. (7540558)
1995
46
Ticlopidine and fatal aplastic anemia in an elderly woman. (7841572)
1994
47
gamma-Interferon gene expression in the bone marrow of patients with aplastic anemia. (8311369)
1994
48
Treatment of refractory severe aplastic anemia with granulocyte colony stimulating factor and interleukin 3. (7514849)
1994
49
Papilledema in a patient with aplastic anemia. (2256833)
1990
50
A case of hybrid phenotypic chronic myelomonocytic leukemia transformed from aplastic anemia. (2739149)
1989

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
10.7IFNG, CSF2RA, CSF2, CSF3, FLT3LG, EPO
210.7THPO, CSF2RA, CSF2, CSF3, FLT3LG, EPO
310.6IFNG, CSF2RA, CSF2, CSF3, EPO, IL3
4
Hide members
10.6CSF2RA, CSF2, CSF3, IL3, KITLG, THPO
5
Hide members
10.6CSF2RA, CSF2, CSF3, IL3, KITLG, THPO
6
Hide members
10.6IFNG, CSF2, PRF1, IL3
7
Hide members
10.6IFNG, CSF2, TBX21, IL3
8
Hide members
10.6IL3, CSF2, CSF2RA, IFNG
910.6GATA2, TBX21, IL3, KITLG
1010.6GAR1, DKC1, SBDS, NOP10
1110.6IFNG, PRF1, TBX21
1210.6TERT, DKC1, IFNG
1310.6IFNG, CSF2, TBX21
1410.6TERT, EPO, GATA2
15
Hide members
10.6IL3, CSF2, CSF2RA
16
Hide members
10.6THPO, CSF2, CSF2RA
1710.5TERT, DKC1
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:00561510.7THPO, KITLG, IL3, EPO, FLT3LG, CSF3
2extracellular regionGO:00557610.7CSF2RA, CSF2, PRF1, EPO, IL3, KITLG
3Cajal bodyGO:01503010.4GAR1, DKC1, NOP10
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, EPO, CSF2
2pseudouridine synthesisGO:00152210.8NOP10, DKC1, GAR1
3positive regulation of tyrosine phosphorylation of Stat5 proteinGO:04252310.8CSF2, EPO, IL3
4rRNA processingGO:00636410.8NOP10, SBDS, DKC1, GAR1
5embryonic hemopoiesisGO:03516210.8KITLG, IL3, FLT3LG
6positive regulation of cell proliferationGO:00828410.7IL3, EPO, FLT3LG, CSF3, CSF2
7positive regulation of interleukin-23 productionGO:03274710.7IFNG, CSF2
8positive regulation of isotype switching to IgG isotypesGO:04830410.6TBX21, IFNG
9positive regulation of peptidyl-tyrosine phosphorylationGO:05073110.6CSF3, IL3, KITLG
10positive regulation of Ras protein signal transductionGO:04657910.5KITLG, EPO
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:00512510.6THPO, KITLG, IL3, FLT3LG, CSF3, CSF2
2telomerase activityGO:00372010.5TERT, DKC1
3growth factor activityGO:00808310.3CSF2, CSF3, IL3, KITLG, THPO

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