MCID: RHB017
MIFTS: 54

Rhabdoid Tumor malady

Genetic diseases, Rare diseases, Cancer diseases categories

Aliases & Classifications for Rhabdoid Tumor

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Sources:
41NIH Rare Diseases, 43Novoseek, 47Orphanet, 60UMLS, 34MESH via Orphanet, 61UMLS via Orphanet
See all sources

Rhabdoid Tumor, Aliases & Descriptions:

Name: Rhabdoid Tumor 41 43 47 60
Malignant Rhabdoid Tumor 47
 
Rhabdoid Sarcoma 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Orphanet: 47 
Rare tumors


Characteristics (Orphanet epidemiological data):

47
rhabdoid tumor:
Prevalence: <1/1000000 (Europe); Age of onset: Antenatal,Childhood,Infancy,Neonatal; Age of death: early childhood,infantile,stillbirth


External Ids:

Orphanet47 69077
MESH via Orphanet34 D018335
UMLS via Orphanet61 C0206743

Summaries for Rhabdoid Tumor

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MalaCards based summary: Rhabdoid Tumor, also known as malignant rhabdoid tumor, is related to atypical teratoid rhabdoid tumor and ganglioglioma, and has symptoms including ophthalmoparesis, behavioral abnormality and hematuria. An important gene associated with Rhabdoid Tumor is SMARCB1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1), and among its related pathways are Cytoskeleton remodeling RalA regulation pathway and Cytoskeletal Signaling. The compounds orcein and 2-methoxyethanol have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and liver, and related mouse phenotypes are liver/biliary system and tumorigenesis.

Related Diseases for Rhabdoid Tumor

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Diseases in the Rhabdoid Tumor family:

Familial Rhabdoid Tumor

Diseases related to Rhabdoid Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 151)
idRelated DiseaseScoreTop Affiliating Genes
1atypical teratoid rhabdoid tumor32.6SMARCB1
2ganglioglioma31.3SYP
3epithelioid sarcoma31.3MUC1, VIM, SMARCB1
4choroid plexus carcinoma31.1SMARCB1
5neuroblastoma31.0SYP
6fibrous histiocytoma30.7DES, VIM, ACTC1
7beckwith-wiedemann syndrome30.4IGF1R, IGF2
8chondrosarcoma30.4MUC1, VIM, DES
9wilms tumor30.3DES, IGF1R, IGF2, SMARCB1, VIM, ACTC1
10sarcoma30.3DES, IGF1R, IGF2, SMARCB1, VIM, MUC1
11medulloblastoma30.2DES, IGF1R, IGF2, AURKA, SMARCB1, ACTC1
12pleomorphic adenoma30.0DES, IGF2, VIM, MUC1, ACTC1
13adenoma29.9IGF1R, IGF2, SMARCA4, MUC1, ACTC1, SYP
14adenocarcinoma29.7SPP1, IGF1R, SMARCA4, VIM, MUC1, ACTC1
15rhabdomyosarcoma29.5DES, IGF1R, IGF2, SMARCB1, VIM, STIM1
16rhabdoid tumors, somatic10.6
17neuroectodermal tumor10.6
18rhabdoid tumor predisposition syndrome 210.6
19congenital mesoblastic nephroma10.6SMARCB1
20infantile myofibromatosis10.6DES
21retroperitoneal leiomyosarcoma10.5SMARCB1
22syringoma10.5MUC1
23neurilemmoma10.5SMARCB1
24fasciitis10.5ACTC1
25adenomatoid tumor10.5VIM
26melanotic neuroectodermal tumor10.5SYP
27fibrous dysplasia10.5SPP1
28fibrous meningioma10.5MUC1
29hidradenoma10.5MUC1
30familial rhabdoid tumor10.5
31subependymal giant cell astrocytoma10.5SYP
32cystadenocarcinoma10.5MUC1
33peripheral primitive neuroectodermal tumor10.4IGF1R
34tumor predisposition syndrome10.4
35cerebritis10.4
36cervicitis10.4
37desmoid disease, hereditary10.4ACTC1, DES
38cutaneous fibrous histiocytoma10.4DES, ACTC1
39adenosarcoma10.4DES, ACTC1
40desmoplastic small round cell tumor10.4MUC1, DES
41alveolar soft-part sarcoma10.4DES, VIM
42clear cell ependymoma10.3MUC1, VIM
43myoepithelioma10.3VIM, ACTC1
44thymic carcinoma10.3MUC1, SYP
45merkel cell carcinoma10.3SYP, MUC1
46secretory meningioma10.3VIM, MUC1
47hemangioblastoma10.3MUC1, SYP
48perineurioma10.3MUC1, VIM
49striated muscle rhabdoid tumor10.3
50choroiditis10.3

Graphical network of the top 20 diseases related to Rhabdoid Tumor:



Diseases related to rhabdoid tumor

Symptoms for Rhabdoid Tumor

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Symptoms:

 47 (show all 24)
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • acute abdominal pain/colic
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • chronic arterial hypertension
  • lymphadenopathy/polyadenopathies
  • hematuria/microhematuria
  • cranial nerves palsy
  • facial pain/cephalalgia/migraine
  • acute palsy
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • internal hemorrhage
  • hepatic/liver neoplasm/tumor/carcinoma/cancer
  • kidney/renal neoplasm/tumor/carcinoma/cancer
  • soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • early death/lethality
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • fever/chilling
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • anaemia
  • thrombocytopenia/thrombopenia
  • hypercalcemia

HPO human phenotypes related to Rhabdoid Tumor:

(show all 23)
id Description Frequency HPO Source Accession
1 ophthalmoparesis typical (50%) HP:0000597
2 behavioral abnormality typical (50%) HP:0000708
3 hematuria typical (50%) HP:0000790
4 hypertension typical (50%) HP:0000822
5 abnormality of the skin typical (50%) HP:0000951
6 weight loss typical (50%) HP:0001824
7 abnormality of coagulation typical (50%) HP:0001928
8 nausea and vomiting typical (50%) HP:0002017
9 abdominal pain typical (50%) HP:0002027
10 migraine typical (50%) HP:0002076
11 respiratory insufficiency typical (50%) HP:0002093
12 lymphadenopathy typical (50%) HP:0002716
13 neoplasm of the liver typical (50%) HP:0002896
14 abnormality of temperature regulation typical (50%) HP:0004370
15 neoplasm of the nervous system typical (50%) HP:0004375
16 cranial nerve paralysis typical (50%) HP:0006824
17 renal neoplasm typical (50%) HP:0009726
18 cerebral palsy typical (50%) HP:0100021
19 sarcoma typical (50%) HP:0100242
20 thrombocytopenia occasional (7.5%) HP:0001873
21 anemia occasional (7.5%) HP:0001903
22 hypercalcemia occasional (7.5%) HP:0003072
23 hemiplegia/hemiparesis occasional (7.5%) HP:0004374

Drugs & Therapeutics for Rhabdoid Tumor

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Drug clinical trials:

Search ClinicalTrials for Rhabdoid Tumor

Search NIH Clinical Center for Rhabdoid Tumor

Genetic Tests for Rhabdoid Tumor

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Anatomical Context for Rhabdoid Tumor

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MalaCards organs/tissues related to Rhabdoid Tumor:

31
Kidney, Brain, Liver, Lung, Skin, Pineal, Cerebellum, Colon, Thyroid, Uterus, Ovary, Tongue, Lymph node, Spinal cord, Heart, Smooth muscle, Adipocyte, Adrenal gland, Breast, Prostate, Temporal lobe, Occipital lobe, Thalamus

Animal Models for Rhabdoid Tumor or affiliated genes

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Publications for Rhabdoid Tumor

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Articles related to Rhabdoid Tumor:

(show top 50)    (show all 541)
idTitleAuthorsYear
1
Atypical teratoid/rhabdoid tumor (AT/RT) arising from the acoustic nerve in a young adult: a case report and a review of literature. (25634176)
2015
2
Intracranial atypical teratoid rhabdoid tumor: current management and a single institute experience of 15 patients from north India. (25646852)
2015
3
Rhabdoid tumor predisposition syndrome. (25494491)
2015
4
Large congenital melanocytic nevi with atypical teratoid/rhabdoid tumor. (23519929)
2013
5
CRX/OTX3: a useful marker in the differential diagnosis of tumors of the pineal region and indicator of photoreceptor differentiation in medulloblastomas and atypical teratoid rhabdoid tumors. (23235340)
2013
6
Primary rhabdoid tumor with low grade glioma component of the central nervous system in a young adult. (22765644)
2013
7
The histone deacetylase inhibitor SAHA acts in synergism with fenretinide and doxorubicin to control growth of rhabdoid tumor cells. (23764045)
2013
8
Absence of oncogenic canonical pathway mutations in aggressive pediatric rhabdoid tumors. (22997201)
2012
9
Treatment-related morbidity in atypical teratoid/rhabdoid tumor: multifocal necrotizing leukoencephalopathy. (21613772)
2011
10
Supratentorial atypical teratoid rhabdoid tumor: An uncommon childhood tumor. (21977104)
2011
11
Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression. (21566516)
2011
12
Systematic analysis of the antiproliferative effects of novel and standard anticancer agents in rhabdoid tumor cell lines. (20147838)
2010
13
Adult variant of atypical teratoid/rhabdoid tumor: immunohistochemical and ultrastructural confirmation of a rare tumor in the sella tursica. (20705400)
2010
14
Fetal and neonatal rhabdoid tumor. (20223330)
2010
15
Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor. (19902524)
2010
16
Imprinted CDKN1C is a tumor suppressor in rhabdoid tumor and activated by restoration of SMARCB1 and histone deacetylase inhibitors. (19221586)
2009
17
Atypical teratoid/rhabdoid tumor of the spine in a 4-year-old girl. (19073850)
2008
18
Atypical teratoid/rhabdoid tumor of the central nervous system associated with congenital cataract. (18723966)
2008
19
Mutation of the INI1 gene in composite rhabdoid tumor of the endometrium. (17376508)
2007
20
Atypical teratoid/rhabdoid tumor of the spinal canal. (16411024)
2006
21
Absence of expression of SMARCB1/INI1 in malignant rhabdoid tumors of the central nervous system, kidneys and soft tissue: an immunohistochemical study with implications for diagnosis. (16528370)
2006
22
Treatment of stage IV malignant rhabdoid tumor of the kidney (MRTK) with ICE and VDCy: a case report. (16772877)
2006
23
Atypical teratoid rhabdoid tumor in a child with neurofibromatosis 1. (16086409)
2006
24
Rhabdoid tumor of the thyroid gland: a variant of anaplastic carcinoma. (15737050)
2005
25
Continuous remission of newly diagnosed and relapsed central nervous system atypical teratoid/rhabdoid tumor. (15803379)
2005
26
E, N-cadherins and beta-catenin expression in medulloblastoma and atypical teratoid/rhabdoid tumor. (15508347)
2004
27
Cytologic profile of rhabdoid tumor of the kidney. A report of 3 cases. (14674079)
2003
28
The role of INI1 and the SWI/SNF complex in the development of rhabdoid tumors: meeting summary from the workshop on childhood atypical teratoid/rhabdoid tumors. (11782395)
2002
29
Subcellular distribution of cytokeratin and vimentin in malignant rhabdoid tumor: three-dimensional imaging with confocal laser scanning microscopy and double immunofluorescence. (11557780)
2001
30
Cytokeratin subunits of inclusion bodies in rhabdoid cells: immunohistochemical and clinicopathological study of malignant rhabdoid tumor and epithelioid sarcoma. (11469343)
2001
31
Atypical teratoid/rhabdoid tumor or medulloblastoma? (11344497)
2001
32
Abdominal rhabdoid tumor presenting as fetal hydrops: a case report. (11846311)
2001
33
CSF cytology of atypical teratoid/rhabdoid tumor of the brain in a two-year-old girl: a case report. (11074628)
2000
34
Congenital disseminated malignant rhabdoid tumor: a distinct clinicopathologic entity demonstrating abnormalities of chromosome 22q11. (10078913)
1999
35
Congenital malignant rhabdoid tumor of the orbit. (10532580)
1999
36
Rhabdoid tumor of the kidney arising in a newborn infant: description of a case with ultrastructural observations]. (10536466)
1999
37
Atypical teratoid/rhabdoid tumor--a stereogram unveiled. (10331072)
1999
38
Simultaneous presentation of atypical teratoid/rhabdoid tumor in siblings. (10448873)
1999
39
Pathologic quiz case. Extrarenal rhabdoid tumor. (10458840)
1999
40
Rhabdoid tumor of the kidney associated with a tumor of the posterior fossa. (9477277)
1998
41
Congenital malignant rhabdoid tumor presenting as a cutaneous nodule: report of 2 cases with review of the literature. (9870859)
1998
42
Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood. (9206002)
1997
43
Narrowing the critical region for a rhabdoid tumor locus in 22q11. (8818656)
1996
44
Carcinosarcoma (malignant mixed mA1llerian tumor) of the uterus with a rhabdoid tumor component. An immunohistochemical, ultrastructural, and immunoelectron microscopic case study. (7856569)
1995
45
Malignant rhabdoid tumor of the brain and kidney in a child: clinical and pathologic features. (7575853)
1995
46
Successful treatment of disseminated central nervous system malignant rhabdoid tumor. (7743242)
1995
47
Primary malignant rhabdoid tumor of the brain: clinical, imaging, and pathologic findings. (8427070)
1993
48
Clinical and imaging features of rhabdoid tumor of the kidney. (1897075)
1991
49
Poorly differentiated primary orbital sarcoma (presumed malignant rhabdoid tumor). Radiologic and histopathologic correlation. (1656924)
1991
50
Malignant rhabdoid tumor of the vulva: is distinction from epithelioid sarcoma possible? A pathologic and immunohistochemical study. (2476944)
1989

Variations for Rhabdoid Tumor

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Clinvar genetic disease variations for Rhabdoid Tumor:

6
id Gene Variation Type Significance SNP ID Assembly Location
1SMARCA4NM_001128844.1(SMARCA4): c.3533G> A (p.Trp1178Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11030880: 11030880
2SMARCA4NM_001128844.1(SMARCA4): c.4170+1G> Asingle nucleotide variantPathogenicGRCh38Chr 19, 11035133: 11035133
3SMARCA4NM_001128844.1(SMARCA4): c.643C> T (p.Gln215Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11097152: 11097152
4SMARCA4NM_001128844.1(SMARCA4): c.2617-3C> Gsingle nucleotide variantPathogenicGRCh38Chr 19, 11021722: 11021722
5SMARCA4NM_001128844.1(SMARCA4): c.3239G> A (p.Gly1080Asp)single nucleotide variantPathogenicGRCh38Chr 19, 11027807: 11027807
6SMARCA4NM_001128844.1(SMARCA4): c.3565C> T (p.Arg1189Ter)single nucleotide variantPathogenicrs267607070GRCh37Chr 19, 11143984: 11143984
7SMARCB1NM_003073.3(SMARCB1): c.591delG (p.Gln198Argfs)deletionPathogenicGRCh37Chr 22, 24145572: 24145572
8SMARCB1SMARCB1, IVS7DS, G-A, +1single nucleotide variantPathogenic
9SMARCB1NM_003073.3: c.629-361_795+2103dupduplicationPathogenicGRCh38Chr 22, 23816409: 23819039

Expression for genes affiliated with Rhabdoid Tumor

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Search GEO for disease gene expression data for Rhabdoid Tumor.

Pathways for genes affiliated with Rhabdoid Tumor

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Pathways related to Rhabdoid Tumor according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7ACTC1, AURKA
29.5ACTC1, VIM, DES
3
Show member pathways
9.5DES, VIM, ACTC1
4
Show member pathways
Signaling by Aurora kinases36
Aurora C signaling36
9.3VIM, AURKA, DES
59.1IGF2, IGF1R, SPP1
6
Show member pathways
8.1SPP1, DES, IGF1R, IGF2, VIM, MUC1

Compounds for genes affiliated with Rhabdoid Tumor

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Compounds related to Rhabdoid Tumor according to GeneCards Suite gene sharing:

(show top 50)    (show all 100)
idCompoundScoreTop Affiliating Genes
1orcein439.9VIM, ACTC1, DES
22-methoxyethanol439.7VIM, ACTC1, IGF2
3biotin43 24 1211.5ACTC1, MUC1, VIM, DES
4procollagen439.5DES, SPP1, ACTC1, VIM
5s 100439.3MUC1, DES, VIM, ACTC1, SYP
6reticulin439.3ACTC1, SYP, DES, VIM, MUC1
7mucicarmine439.3VIM, MUC1, ACTC1, SYP, DES
8b 723439.3SYP, DES, MUC1, VIM, ACTC1
9hematoxylin439.3SYP, ACTC1, DES, VIM, MUC1
10gold439.3SYP, MUC1, IGF1R, DES
11formaldehyde43 2410.2DES, MUC1, SYP, VIM, ACTC1
12adriamycin439.2VIM, MUC1, IGF1R, DES
13imatinib43 49 1211.2IGF2, IGF1R, DES, ACTC1
14cyclic amp43 2410.1MUC1, VIM, SMARCA4, SYP, DES
154-hydroxytamoxifen439.0VIM, IGF2, IGF1R
16ethanol43 49 24 1212.0IGF1R, SYP, MUC1, DES
17etoposide43 49 59 1212.0IGF2, VIM, SYP, IGF1R
18neomycin438.9SPP1, IGF2, VIM
19hyaluronic acid43 249.9VIM, MUC1, SPP1, DES, IGF1R
20matrigel438.9MUC1, ACTC1, SPP1, IGF1R, VIM
21progestin438.9VIM, IGF2, MUC1, IGF1R, DES
22tamoxifen43 49 28 1211.9VIM, IGF1R, MUC1, IGF2
23dihydrotestosterone43 28 24 1211.9VIM, DES, IGF1R, MUC1, IGF2
24ribonucleic acid438.8ACTC1, MUC1, IGF2, SPP1, IGF1R
25vitamin d438.8IGF2, IGF1R, SPP1, VIM
26forskolin43 49 1210.7MUC1, VIM, IGF2, IGF1R, SYP
27butyrate438.7MUC1, VIM, IGF2, IGF1R, SPP1
28lactate438.7IGF1R, IGF2, VIM, SPP1, DES
29steroid438.6SYP, ACTC1, SMARCA4, IGF2, IGF1R, DES
30cisplatin43 49 59 1211.6MUC1, IGF2, SYP, SPP1, IGF1R
31paclitaxel43 49 1210.6IGF2, AURKA, VIM, IGF1R
32oligonucleotide438.6IGF2, VIM, SMARCA4, IGF1R, SPP1
33estradiol43 24 1210.6MUC1, SYP, VIM, IGF2, DES, IGF1R
34agar438.5IGF1R, IGF2, SMARCA4, SPP1, VIM, MUC1
35actinomycin d438.5IGF1R, MUC1, IGF2, DES, VIM, SPP1
36arginine438.4IGF1R, SPP1, DES, IGF2, SMARCA4, VIM
37h2o2438.4VIM, SYP, SPP1, DES, IGF1R, IGF2
38glycogen43 249.3IGF1R, MUC1, VIM, IGF2, ACTC1, DES
39glucose438.3IGF2, IGF1R, SPP1, DES, SMARCA4, MUC1
40dexamethasone43 49 28 1211.2SYP, ACTC1, MUC1, SPP1, IGF1R, IGF2
41tyrosine437.9SMARCA4, IGF2, SYP, ACTC1, MUC1, SPP1
42paraffin437.9MUC1, IGF1R, DES, ACTC1, VIM, IGF2
43creatinine437.9MUC1, ACTC1, SYP, SPP1, IGF2, IGF1R
44vegf437.9VIM, IGF1R, MUC1, SYP, ACTC1, SPP1
45cysteine437.9SMARCA4, IGF2, DES, SPP1, MUC1, IGF1R
46retinoic acid43 248.9SPP1, DES, VIM, IGF1R, IGF2, ACTC1
47progesterone43 28 59 24 1211.6SPP1, ACTC1, SYP, VIM, SMARCA4, IGF1R
48testosterone43 59 24 1210.6MUC1, SMARCA4, IGF2, IGF1R, DES, SPP1
49serine437.6SYP, MUC1, VIM, AURKA, IGF2, IGF1R
50estrogen437.1SMARCA4, SYP, ACTC1, AURKA, IGF2, IGF1R

GO Terms for genes affiliated with Rhabdoid Tumor

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Cellular components related to Rhabdoid Tumor according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1SWI/SNF complexGO:001651410.0SMARCA4, SMARCB1
2npBAF complexGO:00715649.9SMARCA4, SMARCB1
3nBAF complexGO:00715659.7SMARCA4, SMARCB1

Biological processes related to Rhabdoid Tumor according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1blastocyst hatchingGO:000183510.1SMARCB1, SMARCA4
2positive regulation by host of viral transcriptionGO:004392310.0SMARCB1, SMARCA4
3nucleosome disassemblyGO:00063379.9SMARCA4, SMARCB1
4muscle filament slidingGO:00300499.7ACTC1, VIM, DES
5positive regulation of steroid hormone biosynthetic processGO:00900319.6IGF1R, IGF2
6exocrine pancreas developmentGO:00310179.6IGF2, IGF1R
7positive regulation of mitosisGO:00458409.2AURKA, IGF2
8positive regulation of transcription from RNA polymerase II promoterGO:00459448.9CRX, SMARCA4, SMARCB1, IGF2

Molecular functions related to Rhabdoid Tumor according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Tat protein bindingGO:00309579.9SMARCA4, SMARCB1
2p53 bindingGO:00020399.6SMARCB1, SMARCA4, MUC1
3insulin receptor bindingGO:00051589.5IGF2, IGF1R
4identical protein bindingGO:00428028.2SYP, STIM1, VIM, IGF1R, DES
5protein bindingGO:00055156.3DES, IGF1R, IGF2, AURKA, SMARCB1, SMARCA4

Products for genes affiliated with Rhabdoid Tumor

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  • Antibodies
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Sources for Rhabdoid Tumor

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet