MCID: BLS003
MIFTS: 53

Blastoma malady

Rare diseases, Cancer diseases categories

Summaries for Blastoma

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9Disease Ontology, 66Wikipedia, 34MalaCards
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Disease Ontology:9 A cell type cancer that has material basis in abnormally proliferating cells derived from precursor cells called blast cells.

MalaCards: Blastoma is related to pulmonary blastoma and pleuropulmonary blastoma. An important gene associated with Blastoma is DICER1 (dicer 1, ribonuclease type III), and among its related pathways are G protein signaling K RAS regulation pathway and EGFR Transactivation by Gastrin. The compounds mucicarmine and crcs have been mentioned in the context of this disorder. Affiliated tissues include lung, fetal lung and thyroid, and related mouse phenotypes are tumorigenesis and limbs/digits/tail.

Wikipedia:66 A blastoma is a type of cancer, more common in children, that is caused by malignancies in precursor... more...

Aliases & Classifications for Blastoma

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9Disease Ontology, 44NIH Rare Diseases, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Cancer diseases


Aliases & Descriptions:

blastoma 9 44 63


External Ids:

Disease Ontology9 DOID:0070003

Related Diseases for Blastoma

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18GeneCards, 19GeneDecks
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Diseases related to Blastoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 144)
idRelated DiseaseScoreTop Affiliating Genes
1pulmonary blastoma31.8NKX2-1
2pleuropulmonary blastoma31.7TARBP2, XPO5, DICER1
3cystic nephroma30.8DICER1
4teratoma30.2GFAP, NKX2-1, CGB
5rhabdomyosarcoma29.9TP53, VIM, MYCN
6sarcoma29.8TP53, VIM, MYCN, KRAS, CGB
7retinoblastoma29.7GFAP, TP53, MYCN, SYP, KRAS, EGFR
8melanoma29.7TP53, SERPINA1, VIM, MYCN, NKX2-1, KRAS
9adenocarcinoma29.7TP53, SERPINA1, POU1F1, VIM, MYCN, SYP
10pneumothorax10.4
11classic pulmonary blastoma10.4
12dicer1-related disorders10.4
13dicer1-related pleuropulmonary blastoma cancer predisposition syndrome10.3
14embryoma10.2
15thyroiditis10.2
16pleuropulmonary blastoma type 110.2
17cerebritis10.2
18epithelial predominant pulmonary blastoma10.2
19medulloepithelioma10.2
20melanotic neuroectodermal tumor10.1SYP
21turcot syndrome10.1CTNNB1
22dysembryoplastic neuroepithelial tumor10.1SYP
23superior vena cava syndrome10.1CGB
24ovarian small cell carcinoma10.1TTF1
25cerebral primitive neuroectodermal tumor10.1MYCN
26gemistocytic astrocytoma10.1GFAP
27granulosa cell tumor of the ovary10.1NKX2-1, CTNNB1
28gliosarcoma10.1GFAP
29mixed glioma10.1GFAP
30neurilemmoma10.1GFAP
31syringoma10.1GFAP
32benign mesothelioma10.1NKX2-1, TP53
33gliomatosis cerebri10.1GFAP
34thymus cancer10.1SYP, NKX2-1
35adenomatoid tumor10.1VIM
36acinar cell carcinoma10.1CTNNB1, SERPINA1
37merkel cell carcinoma10.1NKX2-1, SYP
38thyroid cancer, anaplastic10.1CTNNB1, NKX2-1, TP53
39ganglioneuroblastoma10.1MYCN, SYP
40spindle cell carcinoma10.1
41laryngitis10.1
42thyroid cancer10.1
43spontaneous pneumothorax10.1
44pleuropulmonary blastoma type 210.1
45pleuropulmonary blastoma type 310.1
46pseudosarcomatous fibromatosis10.1CTNNB1, VIM
47subependymal giant cell astrocytoma10.1SYP, GFAP
48granular cell tumor10.1VIM, SYP
49pineoblastoma10.1GFAP, SYP
50glomus tumor10.1VIM, SYP

Graphical network of the top 20 diseases related to Blastoma:



Diseases related to blastoma

Symptoms for Blastoma

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Drugs & Therapeutics for Blastoma

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Blastoma

Genetic Tests for Blastoma

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Anatomical Context for Blastoma

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34MalaCards
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MalaCards organs/tissues related to Blastoma:

34
Lung, Fetal lung, Thyroid, Kidney, Lymph node, Pituitary, Ovary, Bronchial epithelium, Spinal cord, Brain, Liver

Animal Models for Blastoma or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Blastoma:

38 (show all 25)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.0TP53, DICER1, NKX2-1, KRAS, EGFR, CTNNB1
2MP:00053718.9TP53, MYCN, DICER1, KRAS, EGFR, CTNNB1
3MP:00011868.9TP53, KRAS, EGFR, CTNNB1
4MP:00053708.8TP53, MYCN, DICER1, KRAS, EGFR, CTNNB1
5MP:00053908.8CTNNB1, EGFR, NKX2-1, DICER1, MYCN, TP53
6MP:00030128.7TP53, MYCN, SYP, NKX2-1, EGFR, CTNNB1
7MP:00053678.7TP53, MYCN, DICER1, KRAS, EGFR, CTNNB1
8MP:00053828.7TP53, POU1F1, MYCN, DICER1, EGFR, CTNNB1
9MP:00053808.4TP53, VIM, MYCN, DICER1, KRAS, EGFR
10MP:00053798.4TP53, POU1F1, DICER1, NKX2-1, KRAS, EGFR
11MP:00053888.3TP53, VIM, MYCN, DICER1, NKX2-1, KRAS
12MP:00053818.3GFAP, TP53, MYCN, NKX2-1, KRAS, EGFR
13MP:00053918.1GFAP, TP53, VIM, MYCN, KRAS, EGFR
14MP:00053698.1GFAP, TP53, VIM, MYCN, KRAS, EGFR
15MP:00028738.1GFAP, TP53, MYCN, DICER1, SYP, KRAS
16MP:00053867.9GFAP, TP53, VIM, MYCN, DICER1, NKX2-1
17MP:00053977.9TP53, POU1F1, VIM, MYCN, DICER1, KRAS
18MP:00053857.7GFAP, TP53, VIM, MYCN, DICER1, NKX2-1
19MP:00053847.6GFAP, TP53, VIM, MYCN, DICER1, NKX2-1
20MP:00053877.3GFAP, TP53, POU1F1, VIM, DICER1, KRAS
21MP:00053767.2GFAP, TP53, POU1F1, VIM, MYCN, DICER1
22MP:00053897.0CTNNB1, TP53, POU1F1, VIM, MYCN, DICER1
23MP:00036316.9GFAP, TP53, POU1F1, VIM, MYCN, DICER1
24MP:00053786.4VIM, POU1F1, TP53, GFAP, MYCN, DICER1
25MP:00107686.4GFAP, TP53, POU1F1, VIM, MYCN, DICER1

Publications for Blastoma

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53PubMed
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Articles related to Blastoma:

(show top 50)    (show all 337)
idTitleAuthorsYear
1
An unusual case of pleuropulmonary blastoma in a child with jejunal hamartomas. (23970988)
2013
2
Germ-line and somatic DICER1 mutations in a pleuropulmonary blastoma. (23868280)
2013
3
Adult biphasic pulmonary blastoma. (23427368)
2013
4
18F-FDG PET/CT appearances of adult pulmonary blastoma. (23751833)
2013
5
Pleuropulmonary Blastoma: A Case Report. (24101356)
2013
6
Translocation t(12;17)(q24.1;q21) as the sole anomaly in a nasal chondromesenchymal hamartoma arising in a patient with pleuropulmonary blastoma. (22356457)
2012
7
Expression and mutation analysis of EGFR, c-KIT, and I^-catenin in pulmonary blastoma. (21292787)
2011
8
Pulmonary blastoma with yolk sac elements. (21045461)
2010
9
Interaction and self-organization of human mesenchymal stem cells and neuro-blastoma SH-SY5Y cells under co-culture conditions: A novel system for modeling cancer cell micro-environment. (20685331)
2010
10
Is congenital cystic adenomatoid malformation a premalignant lesion for pleuropulmonary blastoma? (20620300)
2010
11
Pulmonary blastoma in a neonate: a lesion distinct from pleuropulmonary blastoma with unique cytogenetic features. (19902198)
2010
12
Pulmonary blastoma metastatic to the ovary. (19047906)
2009
13
A familial case of pleuropulmonary blastoma. (18493897)
2008
14
Gain of chromosome 8q is a frequent finding in pleuropulmonary blastoma. (17873899)
2007
15
Pleuropulmonary blastoma, a distinctive neoplasm of childhood: report of three cases. (17285284)
2007
16
Correction: Pleuropulmonary blastoma, not rhabdomyosarcoma in a congenital lung cyst. (16856157)
2007
17
Combined small cell carcinoma with pulmonary blastoma and adenocarcinoma: case report and clonality analysis. (17046168)
2006
18
A patient with shortness of breath and a left hilar mass. Biphasic pulmonary blastoma. (16683903)
2006
19
Type II pleuropulmonary blastoma responsive to multimodal therapy. (15770834)
2005
20
Critical presentation of pleuropulmonary blastoma. (15756566)
2005
21
A rare case of classic biphasic pulmonary blastoma. (16447486)
2005
22
Pleuropulmonary blastoma--case report of a patient presenting in a moribund state. (14768144)
2003
23
P53 gene mutations in pleuropulmonary blastomas. (11881786)
2002
24
Pulmonary blastoma. (11563261)
2001
25
Pleuropulmonary blastoma: an aggressive intrathoracic neoplasm of childhood. (11400650)
2001
26
Pulmonary blastoma: report of two cases. (11381509)
2001
27
Aggressive multimodal treatment of pleuropulmonary blastoma. (11565696)
2001
28
Extension of a pulmonary blastoma into the left atrium. (11393507)
2001
29
Pleuropulmonary blastoma in an adult: an initial case report. (10357407)
1999
30
Pulmonary blastoma: report of a case. (10483763)
1999
31
Pulmonary blastoma: diagnostic and therapeutic aspects. (10415291)
1999
32
Comparative structural study of the glial blastomas of the central nervous system]. (10668265)
1999
33
Case of extra pulmonary, pleuro-pulmonary blastoma in a child: pathological and cytogenetic findings. (9142208)
1997
34
Pleuropulmonary blastoma: a marker for familial disease. (8636815)
1996
35
Pulmonary blastoma presenting as a solitary lip metastasis: case report and review of the literature. (7552426)
1995
36
Pulmonary blastoma in an adult presenting as a chronic loculated effusion: a diagnostic problem. (8091334)
1994
37
Pulmonary blastoma--a case and review of literature. (8613168)
1994
38
Childhood pulmonary blastoma: a pleuropulmonary variant of the adult-type pulmonary blastoma. (1720893)
1991
39
Pulmonary blastoma with neuroendocrine differentiation in cell morules resembling neuroepithelial bodies. (2124206)
1990
40
Pulmonary blastoma--report of a case. (2848950)
1988
41
Computed tomography of pulmonary blastoma in a child. (2991998)
1985
42
Pulmonary blastoma. An ultrastructural study of a case and its transplanted tumor in athymic nude mice. (7417940)
1980
43
Chromosome analysis in a human hepato-blastoma cell line producing alpha-fetoprotein. (6161524)
1980
44
Pulmonary blastoma. (158135)
1979
45
Pulmonary blastoma. (199865)
1977
46
Pulmonary blastoma: A light and electron microscopic study. (974996)
1976
47
Pulmonary blastoma: report of two cases. (1126201)
1975
48
Pulmonary blastoma. (4364385)
1974
49
Pulmonary blastoma. (4355012)
1973
50
Pulmonary blastoma with diverse mesenchymal proliferation. (5075621)
1972

Variations for Blastoma

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Expression for genes affiliated with Blastoma

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Blastoma

Search GEO for disease gene expression data for Blastoma.

Pathways for genes affiliated with Blastoma

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Sources:
51PathCards, 61Thomson Reuters, 56Reactome, 39NCBI BioSystems Database, 31KEGG, 58SinoBiological, 54QIAGEN, 52PharmGKB, 55R&D Systems, 5Cell Signaling Technology, 62Tocris Bioscience
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Pathways related to Blastoma according to GeneCards/GeneDecks:

(show all 29)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6EGFR, KRAS
2
Show member pathways
EGFR-dependent Endothelin signaling events39
9.6EGFR, KRAS
39.6KRAS, EGFR
4
Show member pathways
9.6TP53, KRAS, CTNNB1
59.6TP53, KRAS, CTNNB1
69.6TP53, KRAS, CTNNB1
79.5TP53, EGFR, CTNNB1
89.5CTNNB1, EGFR, TP53
99.5CTNNB1, EGFR, TP53
109.5CTNNB1, EGFR, TP53
119.4TARBP2, DICER1
12
Show member pathways
9.4CTNNB1, EGFR, KRAS
13
Show member pathways
Development EGFR signaling via PIP361
Development PDGF signaling via MAPK cascades61
Apoptosis and survival Anti apoptotic action of membrane bound ESR161
Signaling of Hepatocyte Growth Factor Receptor39
Development EGFR signaling via small GTPases61
Development Neurotrophin family signaling61
Apoptosis and survival NGF signaling pathway61
Apoptosis and survival Role of CDK5 in neuronal death and survival61
9.4EGFR, KRAS, TP53
14
Show member pathways
ErbB receptor signaling network39
ErbB signaling pathway39
9.4EGFR, KRAS, TP53
159.4EGFR, KRAS, TP53
169.4TP53, KRAS, EGFR
17
Show member pathways
9.4TP53, KRAS, EGFR
189.3NKX2-1, SYP, GFAP
199.2CTNNB1, EGFR, KRAS, TP53
209.2TP53, KRAS, EGFR, CTNNB1
21
Show member pathways
9.2TP53, KRAS, EGFR, CTNNB1
22
Show member pathways
Signal transduction PTEN pathway61
9.2TP53, KRAS, EGFR, CTNNB1
23
Show member pathways
Signaling Pathways in Glioblastoma39
9.2TP53, KRAS, EGFR, CTNNB1
249.2TP53, KRAS, EGFR, CTNNB1
259.2TP53, KRAS, EGFR, CTNNB1
26
Show member pathways
9.1TARBP2, XPO5, DICER1
278.8EGFR, KRAS, DICER1, VIM, TP53
288.7GFAP, TP53, VIM, EGFR
29
Show member pathways
8.5GFAP, TP53, VIM, EGFR, CTNNB1

Compounds for genes affiliated with Blastoma

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Sources:
46Novoseek, 12DrugBank, 52PharmGKB, 62Tocris Bioscience, 25HMDB, 30IUPHAR, 3BitterDB
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Compounds related to Blastoma according to GeneCards/GeneDecks:

(show top 50)    (show all 102)
idCompoundScoreTop Affiliating Genes
1mucicarmine469.9VIM, NKX2-1, SYP
2crcs469.8KRAS, CTNNB1, TP53
3b 723469.8NKX2-1, VIM, SYP
4temozolomide46 1210.7EGFR, VIM, TP53
5cetuximab46 52 1211.7CTNNB1, KRAS, EGFR
6adriamycin469.6MYCN, TP53, VIM, CTNNB1
7vincristine46 52 1211.6CGB, VIM, TP53, MYCN
8s 100469.6VIM, SYP, GFAP
9reticulin469.6SYP, VIM, GFAP
10mg 13246 6210.5EGFR, MYCN, TP53, CTNNB1
11dutp469.5TP53, SYP, GFAP
12bcnu469.5EGFR, TP53, GFAP
13gefitinib46 52 1211.4CTNNB1, KRAS, EGFR, VIM
14etoposide46 52 62 1212.4VIM, CGB, SYP, MYCN, TP53
15hematoxylin469.4GFAP, VIM, SYP, NKX2-1
16gnrh469.3VIM, NKX2-1, CGB, CTNNB1
17dbc-amp469.3MYCN, VIM, GFAP, SYP
18retinoid469.2CTNNB1, TP53, VIM, MYCN, EGFR
19bromodeoxyuridine469.2GFAP, CTNNB1, MYCN, VIM
20formaldehyde46 2510.2VIM, SYP, NKX2-1, GFAP
21doxorubicin46 52 1211.2EGFR, VIM, MYCN, CTNNB1, TP53
225fluorouracil469.2TP53, KRAS, EGFR, CTNNB1
23leucovorin46 52 1211.1CGB, KRAS, EGFR
24butyrate469.0TP53, VIM, KRAS, CTNNB1, GFAP
25h2o2468.9KRAS, TP53, SERPINA1, VIM, SYP, CTNNB1
26agar468.9VIM, MYCN, CTNNB1, GFAP, EGFR
27acth468.8POU1F1, SERPINA1, GFAP, SYP
28phosphoinositide468.8KRAS, CTNNB1, VIM, POU1F1, EGFR
29forskolin46 52 1210.7POU1F1, SYP, VIM, GFAP, NKX2-1
30dopamine46 30 25 1211.7GFAP, MYCN, POU1F1, CTNNB1, SYP
31creatinine468.7CGB, SYP, VIM, SERPINA1, GFAP
32thymidine46 259.7POU1F1, GFAP, TP53, CTNNB1, SERPINA1
33glutamine468.7GFAP, CTNNB1, SYP, VIM, POU1F1
34cycloheximide468.6MYCN, EGFR, CTNNB1, TP53, GFAP, VIM
35genistein46 30 62 3 25 1213.6GFAP, EGFR, CTNNB1, MYCN, SYP, VIM
36testosterone46 62 25 1211.6EGFR, CTNNB1, CGB, SYP, VIM, GFAP
37cyclic amp46 259.6GFAP, POU1F1, VIM, SYP, NKX2-1, CGB
38paclitaxel46 52 1210.6GFAP, TP53, VIM, KRAS, EGFR, CTNNB1
39dexamethasone46 52 30 1211.5CTNNB1, NKX2-1, POU1F1, VIM, GFAP, SYP
40leucine468.4VIM, GFAP, MYCN, POU1F1, SYP
41oligonucleotide468.2CTNNB1, TP53, SERPINA1, POU1F1, VIM, MYCN
42cysteine468.2SYP, CTNNB1, CGB, SERPINA1, GFAP, VIM
43cisplatin46 52 62 1211.1GFAP, CGB, CTNNB1, EGFR, KRAS, SYP
44vegf467.7CGB, GFAP, TP53, VIM, MYCN, SYP
45tyrosine467.5NKX2-1, CTNNB1, SYP, MYCN, EGFR, POU1F1
46paraffin467.4TP53, KRAS, SERPINA1, VIM, MYCN, SYP
47serine467.4GFAP, MYCN, SYP, SERPINA1, VIM, NKX2-1
48progesterone46 30 62 25 1211.3SYP, GFAP, NKX2-1, EGFR, CTNNB1, CGB
49retinoic acid46 258.2GFAP, TP53, POU1F1, VIM, MYCN, SYP
50estrogen466.9TP53, GFAP, SERPINA1, POU1F1, VIM, SYP

GO Terms for genes affiliated with Blastoma

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17Gene Ontology
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Cellular components related to Blastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RISC complexGO:0164429.4TARBP2, DICER1
2nucleoplasmGO:0056548.9CTNNB1, XPO5, NKX2-1, TP53, TTF1
3cytosolGO:0058297.5GFAP, TP53, VIM, DICER1, XPO5, TARBP2
4nucleusGO:0056346.5TTF1, TP53, POU1F1, MYCN, NKX2-1, XPO5
5cytoplasmGO:0057376.4CTNNB1, GFAP, TTF1, TP53, POU1F1, VIM

Biological processes related to Blastoma according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1epithelial tube branching involved in lung morphogenesisGO:06044110.2NKX2-1, CTNNB1
2negative regulation of reactive oxygen species metabolic processGO:200037810.2TP53, MYCN
3cerebral cortex cell migrationGO:02179510.1EGFR, NKX2-1
4regulation of long-term neuronal synaptic plasticityGO:04816910.0KRAS, SYP
5branching morphogenesis of an epithelial tubeGO:04875410.0MYCN, DICER1
6determination of adult lifespanGO:0083409.9POU1F1, TP53
7hair follicle morphogenesisGO:0310699.9DICER1, CTNNB1
8cell fate specificationGO:0017089.9CTNNB1, POU1F1
9Bergmann glial cell differentiationGO:0600209.8GFAP, VIM
10negative regulation of DNA replicationGO:0081569.8TP53, TTF1
11targeting of mRNA for destruction involved in RNA interferenceGO:0304239.8DICER1, TARBP2
12production of siRNA involved in RNA interferenceGO:0304229.7DICER1, TARBP2
13pre-miRNA processingGO:0310549.7TARBP2, DICER1
14astrocyte developmentGO:0140029.7VIM, GFAP
15intermediate filament organizationGO:0451099.7VIM, GFAP
16lung developmentGO:0303249.6MYCN, DICER1, NKX2-1, EGFR
17positive regulation of transcription, DNA-templatedGO:0458939.3TP53, POU1F1, NKX2-1, CTNNB1
18negative regulation of transcription from RNA polymerase II promoterGO:0001229.3TP53, POU1F1, DICER1, NKX2-1, CTNNB1
19apoptotic processGO:0069159.3CGB, CTNNB1, VIM, TP53
20negative regulation of neuron projection developmentGO:0109779.1VIM, GFAP
21positive regulation of transcription from RNA polymerase II promoterGO:0459448.6CTNNB1, EGFR, NKX2-1, DICER1, MYCN, POU1F1

Molecular functions related to Blastoma according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1protein phosphatase bindingGO:0199039.6CTNNB1, EGFR, TP53
2protein complex bindingGO:0324039.6CTNNB1, KRAS, SYP
3transcription regulatory region DNA bindingGO:0442129.5TP53, NKX2-1, CTNNB1
4miRNA bindingGO:0351989.4DICER1, TARBP2
5double-stranded RNA bindingGO:0037259.1VIM, DICER1, TARBP2
6identical protein bindingGO:0428028.9TP53, SERPINA1, VIM, SYP, EGFR
7sequence-specific DNA binding transcription factor activityGO:0037008.8CTNNB1, NKX2-1, MYCN, POU1F1, TP53
8chromatin bindingGO:0036828.7CTNNB1, EGFR, POU1F1, TP53, TTF1
9protein bindingGO:0055156.6TP53, SERPINA1, VIM, MYCN, DICER1, NKX2-1

Products for genes affiliated with Blastoma

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  • Antibodies
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Sources for Blastoma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet