MCID: RHB001
MIFTS: 51

Rhabdoid Cancer

Categories: Rare diseases, Genetic diseases, Cancer diseases, Neuronal diseases

Aliases & Classifications for Rhabdoid Cancer

MalaCards integrated aliases for Rhabdoid Cancer:

Name: Rhabdoid Cancer 12 14
Rhabdoid Tumor 12 72 49 55 28 51 41 69
Rhabdoid Tumor Predisposition Syndrome 1 49 69
Rhabdoid Tumor Predisposition Syndrome 2 49 69
Malignant Rhabdoid Tumor 49 55
Rhabdoid Sarcoma 12 49
Brain Tumor, Posterior Fossa, of Infancy, Familial 49
Atypical Teratoid Rhabdoid Tumor 49
Atypical Teratoid/rhabdoid Tumor 69
Malignant Rhabdoid Tumour 12

Characteristics:

Orphanet epidemiological data:

55
rhabdoid tumor
Prevalence: <1/1000000 (Europe); Age of onset: Antenatal,Childhood,Infancy,Neonatal; Age of death: early childhood,infantile,stillbirth;

Classifications:



Summaries for Rhabdoid Cancer

NIH Rare Diseases : 49 Rhabdoid tumor (RT) is an aggressive pediatric soft tissuesarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor. RT usually occurs in infancy or childhood. In most cases, the first symptoms are linked to the compressive effects of a bulky tumor (such as respiratory distress, abdominal mass, peripheral nerve palsy). In about 90% of cases it is caused by a mutation in the SMARCB1 gene, which is a tumor suppressor gene. In rare cases, it may be caused by a mutation in the SMARCA4 gene. No standard care exists for RT, although there are many ongoing studies. Treatment includes resection of the tumor mass and chemotherapy and radiotherapy. Because atypical teratoid rhabdoid tumors and rhabdoid tumors of the kidney have the same gene mutation and similar biopsy findings, they are now considered identical or closely related entities. Also, 10-15% of patients with malignant rhabdoid tumors have brain tumors. Last updated: 4/24/2015

MalaCards based summary : Rhabdoid Cancer, also known as rhabdoid tumor, is related to familial rhabdoid tumor and atypical teratoid rhabdoid tumor, and has symptoms including irritability, hematuria and hypertension. An important gene associated with Rhabdoid Cancer is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1), and among its related pathways/superpathways are Cytoskeletal Signaling and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include the in the kidney as well as other locations outside the kidneys such as the liver, kidney and liver, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Disease Ontology : 12 A childhood kidney neoplasm that is located in the in the kidney as well as other locations outside the kidneys such as the liver, muscle, heart, lung, soft tissues, skin, the central nervous system.

Wikipedia : 72 Malignant rhabdoid tumour (MRT) is a very aggressive form of tumour originally described as a variant of... more...

Related Diseases for Rhabdoid Cancer

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

(show top 50) (show all 229)
# Related Disease Score Top Affiliating Genes
1 familial rhabdoid tumor 34.3 SMARCA4 SMARCB1
2 atypical teratoid rhabdoid tumor 33.3 IGF1R SMARCA4 SMARCB1 SPP1 SYP
3 kidney rhabdoid cancer 31.6 ENO2 EWSR1 MB PTPRC SMARCB1 WT1
4 small cell carcinoma 29.7 ENO2 PTPRC SMARCA4 SYP
5 epithelioid sarcoma 29.4 MB MUC1 SMARCB1 VIM
6 rhabdomyosarcoma 26.7 DES ENO2 EWSR1 IGF1R IGF2 MB
7 rhabdoid tumor predisposition syndrome 1 12.7
8 rhabdoid tumor predisposition syndrome 2 12.5
9 striated muscle rhabdoid tumor 12.0
10 central nervous system sarcoma 10.6 SMARCA4 SMARCB1
11 peritoneal serous adenocarcinoma 10.6 SYP WT1
12 testicular granulosa cell tumor 10.5 SMARCA4 WT1
13 juvenile type testicular granulosa cell tumor 10.5 SMARCA4 WT1
14 primary hepatic neuroendocrine carcinoma 10.5 SYP VIM
15 hemihyperplasia, isolated 10.5 IGF2 WT1
16 lymphangiectasis 10.5 ACTC1 VIM
17 glomangiomyoma 10.5 ACTC1 VIM
18 endosalpingiosis 10.5 MUC1 WT1
19 intravascular papillary endothelial hyperplasia 10.5 ACTC1 VIM
20 rhabdoid meningioma 10.5 SMARCB1 SYP VIM
21 multicentric reticulohistiocytosis 10.5 PTPRC VIM
22 spindle cell liposarcoma 10.5 MYOD1 SMARCB1 WT1
23 malignant peritoneal mesothelioma 10.5 MUC1 VIM
24 skin glomus tumor 10.5 DES VIM
25 infantile digital fibromatosis 10.4 DES VIM
26 congenital mesoblastic nephroma 10.4 IGF2 SMARCB1 WT1
27 malignant giant cell tumor of soft parts 10.4 ACTC1 PTPRC
28 lymphangiomatosis 10.4 DES VIM
29 cervical polyp 10.4 DES MYOD1
30 gallbladder sarcoma 10.4 DES MYOD1
31 fibrous meningioma 10.4 MUC1 VIM
32 malignant mixed mullerian tumor 10.4 MUC1 VIM
33 kidney clear cell sarcoma 10.4 DES WT1
34 ovarian fibrothecoma 10.4 ACTC1 DES
35 fibroblastic rheumatism 10.4 ACTC1 DES
36 chordoid meningioma 10.4 MUC1 SYP VIM
37 primary cutaneous anaplastic large cell lymphoma 10.4 MUC1 PTPRC
38 papilloma of choroid plexus 10.4 IGF2 MUC1 SYP
39 spindle cell thymoma 10.4 DES MUC1
40 anaplastic ependymoma 10.4 MUC1 SYP VIM
41 nodular hidradenoma 10.4 MUC1 VIM
42 sarcomatoid mesothelioma 10.4 MUC1 VIM WT1
43 angiocentric glioma 10.4 ACTC1 SYP VIM
44 large cell medulloblastoma 10.4 SYP VIM
45 clear cell meningioma 10.4 MUC1 VIM
46 ependymoma 10.3 MUC1 SYP VIM
47 oncocytoma 10.3 MUC1 SYP VIM
48 eccrine porocarcinoma 10.3 MUC1 VIM
49 large cell carcinoma with rhabdoid phenotype 10.3 ENO2 SMARCB1
50 malignant sertoli cell tumor 10.3 ENO2 SYP

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



Diseases related to Rhabdoid Cancer

Symptoms & Phenotypes for Rhabdoid Cancer

Human phenotypes related to Rhabdoid Cancer:

55 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 irritability 55 31 frequent (33%) Frequent (79-30%) HP:0000737
2 hematuria 55 31 frequent (33%) Frequent (79-30%) HP:0000790
3 hypertension 55 31 frequent (33%) Frequent (79-30%) HP:0000822
4 subcutaneous nodule 55 31 frequent (33%) Frequent (79-30%) HP:0001482
5 weight loss 55 31 frequent (33%) Frequent (79-30%) HP:0001824
6 thrombocytopenia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001873
7 anemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001903
8 fever 55 31 frequent (33%) Frequent (79-30%) HP:0001945
9 nausea and vomiting 55 31 frequent (33%) Frequent (79-30%) HP:0002017
10 abdominal pain 55 31 frequent (33%) Frequent (79-30%) HP:0002027
11 respiratory insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0002093
12 hemiplegia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002301
13 headache 55 31 frequent (33%) Frequent (79-30%) HP:0002315
14 lymphadenopathy 55 31 frequent (33%) Frequent (79-30%) HP:0002716
15 neoplasm of the liver 55 31 frequent (33%) Frequent (79-30%) HP:0002896
16 hypercalcemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0003072
17 poor appetite 55 31 frequent (33%) Frequent (79-30%) HP:0004396
18 cranial nerve paralysis 55 31 frequent (33%) Frequent (79-30%) HP:0006824
19 renal neoplasm 55 31 frequent (33%) Frequent (79-30%) HP:0009726
20 internal hemorrhage 55 31 frequent (33%) Frequent (79-30%) HP:0011029
21 oculomotor nerve palsy 55 31 frequent (33%) Frequent (79-30%) HP:0012246
22 neoplasm of the central nervous system 55 31 frequent (33%) Frequent (79-30%) HP:0100006
23 cerebral palsy 55 31 frequent (33%) Frequent (79-30%) HP:0100021
24 sarcoma 55 31 frequent (33%) Frequent (79-30%) HP:0100242

GenomeRNAi Phenotypes related to Rhabdoid Cancer according to GeneCards Suite gene sharing:

25 (show all 29)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.96 WT1 SMARCB1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.96 SMARCA4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.96 VIM
4 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.96 SMARCA4 SMARCB1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.96 IGF1R
6 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.96 WT1 SMARCB1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.96 IGF1R
8 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.96 VIM
9 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.96 WT1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.96 IGF1R
11 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.96 SMARCA4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.96 VIM SMARCB1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.96 VIM IGF1R SMARCA4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.96 VIM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.96 VIM
16 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.96 SMARCB1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.96 IGF1R
18 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.96 IGF1R WT1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.96 WT1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.96 VIM
21 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.96 VIM WT1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.96 WT1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.96 IGF1R WT1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.96 IGF1R WT1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.96 VIM
26 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.96 IGF1R
27 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.96 SMARCB1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.96 VIM IGF1R WT1 SMARCA4 SMARCB1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.96 SMARCA4

MGI Mouse Phenotypes related to Rhabdoid Cancer:

43 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.29 SMARCA4 STIM1 SMARCB1 VIM SPP1 IGF2
2 cardiovascular system MP:0005385 10.27 SMARCA4 STIM1 SMARCB1 VIM WT1 SPP1
3 growth/size/body region MP:0005378 10.23 SPP1 SMARCA4 STIM1 SMARCB1 PTPRC IGF2
4 homeostasis/metabolism MP:0005376 10.22 SMARCA4 STIM1 SMARCB1 VIM SPP1 IGF2
5 hematopoietic system MP:0005397 10.13 SPP1 SMARCA4 STIM1 VIM SMARCB1 PTPRC
6 mortality/aging MP:0010768 10.13 SMARCA4 STIM1 SMARCB1 VIM SPP1 PTPRC
7 muscle MP:0005369 10 SMARCA4 SMARCB1 VIM WT1 SPP1 IGF2
8 liver/biliary system MP:0005370 9.91 SPP1 SMARCA4 SMARCB1 PTPRC IGF2 IGF1R
9 neoplasm MP:0002006 9.7 SPP1 SMARCA4 SMARCB1 PTPRC MYOD1 IGF1R
10 nervous system MP:0003631 9.65 PTPRC SPP1 SMARCA4 STIM1 SYP VIM
11 respiratory system MP:0005388 9.36 SMARCA4 STIM1 VIM WT1 SPP1 IGF2

Drugs & Therapeutics for Rhabdoid Cancer

Search Clinical Trials , NIH Clinical Center for Rhabdoid Cancer

Cochrane evidence based reviews: rhabdoid tumor

Genetic Tests for Rhabdoid Cancer

Genetic tests related to Rhabdoid Cancer:

# Genetic test Affiliating Genes
1 Rhabdoid Tumor 28

Anatomical Context for Rhabdoid Cancer

The Foundational Model of Anatomy Ontology organs/tissues related to Rhabdoid Cancer:

18
The In The Kidney As Well As Other Locations Outside The Kidneys Such As The Liver

MalaCards organs/tissues related to Rhabdoid Cancer:

38
Kidney, Liver, Brain, Skin, Heart, Lung

Publications for Rhabdoid Cancer

Articles related to Rhabdoid Cancer:

# Title Authors Year
1
A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers. ( 22797305 )
2012
2
Primary rhabdoid cancer of the ileum: a case report and review of the literature. ( 19369011 )
2010

Variations for Rhabdoid Cancer

ClinVar genetic disease variations for Rhabdoid Cancer:

6 (show all 29)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMARCB1 SMARCB1, IVS7DS, G-A, +1 single nucleotide variant Pathogenic
2 SMARCB1 NM_003073.4(SMARCB1): c.591delG (p.Gln198Argfs) deletion Pathogenic rs587776678 GRCh37 Chromosome 22, 24145572: 24145572
3 SMARCB1 NM_003073.4(SMARCB1): c.629-361_795+2103dup duplication Pathogenic GRCh38 Chromosome 22, 23816409: 23819039
4 SMARCA4 NM_003072.3(SMARCA4): c.3533G> A (p.Trp1178Ter) single nucleotide variant Pathogenic rs587777460 GRCh38 Chromosome 19, 11030880: 11030880
5 SMARCA4 NM_001128845.1(SMARCA4): c.4071+1G> A single nucleotide variant Pathogenic rs587777461 GRCh38 Chromosome 19, 11035133: 11035133
6 SMARCA4 NM_001128849.1(SMARCA4): c.643C> T (p.Gln215Ter) single nucleotide variant Pathogenic rs587777462 GRCh37 Chromosome 19, 11097152: 11097152
7 SMARCA4 NM_001128845.1(SMARCA4): c.2617-3C> G single nucleotide variant Pathogenic rs587777463 GRCh38 Chromosome 19, 11021722: 11021722
8 SMARCA4 NM_001128849.1(SMARCA4): c.3239G> A (p.Gly1080Asp) single nucleotide variant Pathogenic rs587777464 GRCh38 Chromosome 19, 11027807: 11027807
9 SMARCA4 NM_001128844.1(SMARCA4): c.3565C> T (p.Arg1189Ter) single nucleotide variant Pathogenic rs267607070 GRCh37 Chromosome 19, 11143984: 11143984
10 SMARCA4 NM_001128849.1(SMARCA4): c.3480dupG (p.Leu1161Alafs) duplication Pathogenic rs797045982 GRCh38 Chromosome 19, 11030827: 11030827
11 SMARCA4 NM_001128849.1(SMARCA4): c.2922delC (p.Phe975Serfs) deletion Pathogenic rs797045980 GRCh37 Chromosome 19, 11134256: 11134256
12 SMARCA4 NM_001128849.1(SMARCA4): c.4763delT (p.Val1588Alafs) deletion Pathogenic rs797045987 GRCh37 Chromosome 19, 11170460: 11170460
13 SMARCA4 NM_001128849.1(SMARCA4): c.4339C> T (p.Arg1447Ter) single nucleotide variant Pathogenic rs878854224 GRCh37 Chromosome 19, 11152055: 11152055
14 SMARCB1 NM_003073.4(SMARCB1): c.*82C> T single nucleotide variant Pathogenic rs878854600 GRCh38 Chromosome 22, 23834262: 23834262
15 SMARCA4 NM_001128849.1(SMARCA4): c.662delC (p.Pro221Leufs) deletion Pathogenic rs1060502085 GRCh38 Chromosome 19, 10986495: 10986495
16 SMARCA4 NC_000019.10: g.(?_10984121)_(11062282_?)del deletion Pathogenic GRCh37 Chromosome 19, 11094797: 11172958
17 SMARCA4 NM_001128849.1(SMARCA4): c.4208delG (p.Ser1403Metfs) deletion Pathogenic rs1060502088 GRCh38 Chromosome 19, 11039495: 11039495
18 SMARCB1 NM_003073.4(SMARCB1): c.969_976delGAAGACCT (p.Lys324Argfs) deletion Pathogenic rs1060503017 GRCh38 Chromosome 22, 23825398: 23825405
19 SMARCB1 NM_003073.4(SMARCB1): c.118C> T (p.Arg40Ter) single nucleotide variant Pathogenic rs1060503015 GRCh38 Chromosome 22, 23791780: 23791780
20 SMARCB1 NM_003073.4(SMARCB1): c.152G> A (p.Trp51Ter) single nucleotide variant Pathogenic rs1060503016 GRCh38 Chromosome 22, 23791814: 23791814
21 SMARCA4 NM_001128849.1(SMARCA4): c.1155_1157delTGA (p.Glu386del) deletion Pathogenic GRCh38 Chromosome 19, 10989353: 10989355
22 SMARCA4 NM_001128849.1(SMARCA4): c.300_301delAG (p.Gly102Profs) deletion Pathogenic rs780424104 GRCh37 Chromosome 19, 11096026: 11096027
23 SMARCA4 NC_000019.10: g.(?_11018951)_(11030899_?)del deletion Pathogenic GRCh38 Chromosome 19, 11018951: 11030899
24 SMARCA4 NM_001128849.1(SMARCA4): c.1141C> T (p.Arg381Ter) single nucleotide variant Pathogenic rs972341316 GRCh38 Chromosome 19, 10989339: 10989339
25 SMARCB1 NC_000022.11: g.(?_23787164)_(23834186_?)del deletion Pathogenic GRCh38 Chromosome 22, 23787164: 23834186
26 SMARCB1 NM_003073.4(SMARCB1): c.137_140dup (p.Tyr47Terfs) duplication Pathogenic GRCh37 Chromosome 22, 24133986: 24133989
27 SMARCB1 NM_003073.4(SMARCB1): c.184A> T (p.Lys62Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 24134033: 24134033
28 SMARCB1 NM_003073.4(SMARCB1): c.1118+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 22, 23833704: 23833704
29 SMARCB1 NC_000022.11: g.(?_23793553)_(23793694_?)del deletion Pathogenic GRCh37 Chromosome 22, 24135740: 24135881

Cosmic variations for Rhabdoid Cancer:

9 (show all 39)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM1002 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.118C>T p.R40* 14
2 COSM24595 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.157C>T p.R53* 14
3 COSM992 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.472C>T p.R158* 14
4 COSM1053 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.146C>A p.S49* 14
5 COSM1055 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.793A>T p.K265* 14
6 COSM1085 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.629-1G>A p.? 14
7 COSM29385 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.425T>G p.L142* 14
8 COSM1059 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.916G>T p.E306* 14
9 COSM994 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.618G>A p.W206* 14
10 COSM84488 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3229C>T p.R1077* 14
11 COSM584 NRAS central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.182A>G p.Q61R 14
12 COSM1100 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.629-2A>G p.? 11
13 COSM991 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.141C>A p.Y47* 11
14 COSM1004 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.646G>T p.E216* 11
15 COSM1070 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.631A>T p.K211* 11
16 COSM1071 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.838G>T p.E280* 11
17 COSM53298 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.501-1G>C p.? 11
18 COSM1072 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.142C>T p.P48S 11
19 COSM990 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.778C>T p.Q260* 11
20 COSM1058 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.843G>A p.W281* 11
21 COSM53303 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.842G>A p.W281* 11
22 COSM1001 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.517C>T p.P173S 11
23 COSM4766058 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.689C>T p.P230L 11
24 COSM996 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.727C>T p.Q243* 11
25 COSM4766060 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.961T>A p.W321R 11
26 COSM1075 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.617G>A p.W206* 11
27 COSM1073 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.851C>T p.S284L 11
28 COSM1651766 SMARCA4 soft tissue,striated muscle,rhabdoid tumour,NS c.2438+1G>T p.? 11
29 COSM3427747 PBRM1 soft tissue,striated muscle,rhabdoid tumour,NS c.1381C>T p.R461C 11
30 COSM4766064 PBRM1 soft tissue,striated muscle,rhabdoid tumour,NS c.469G>A p.A157T 11
31 COSM4766063 PBRM1 soft tissue,striated muscle,rhabdoid tumour,NS c.397G>A p.E133K 11
32 COSM5702591 NF2 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 5
33 COSM28746 IDH1 central nervous system,brain,other,neoplasm c.395G>A p.R132H 5
34 COSM28747 IDH1 central nervous system,brain,other,neoplasm c.394C>T p.R132C 5
35 COSM28749 IDH1 central nervous system,brain,other,neoplasm c.394C>G p.R132G 5
36 COSM28748 IDH1 central nervous system,brain,other,neoplasm c.394C>A p.R132S 5
37 COSM28750 IDH1 central nervous system,brain,other,neoplasm c.395G>T p.R132L 5
38 COSM5702574 FOXO3 central nervous system,brain,other,neoplasm c.583A>T p.K195* 5
39 COSM5702592 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 5

Expression for Rhabdoid Cancer

Search GEO for disease gene expression data for Rhabdoid Cancer.

Pathways for Rhabdoid Cancer

GO Terms for Rhabdoid Cancer

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.91 ACTC1 DES ENO2 IGF2 MB MUC1
2 SWI/SNF complex GO:0016514 9.32 SMARCA4 SMARCB1
3 nBAF complex GO:0071565 9.16 SMARCA4 SMARCB1
4 npBAF complex GO:0071564 8.96 SMARCA4 SMARCB1
5 nuclear chromatin GO:0000790 8.92 MUC1 MYOD1 SMARCA4 SMARCB1

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

# Name GO ID Score Top Affiliating Genes
1 nucleosome disassembly GO:0006337 9.43 SMARCA4 SMARCB1
2 intermediate filament organization GO:0045109 9.4 DES VIM
3 positive regulation by host of viral transcription GO:0043923 9.37 SMARCA4 SMARCB1
4 myotube differentiation GO:0014902 9.32 MYOD1 STIM1
5 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.26 SMARCA4 SMARCB1
6 positive regulation of histone H4 acetylation GO:0090240 9.16 MUC1 SMARCB1
7 muscle filament sliding GO:0030049 9.13 ACTC1 DES VIM
8 positive regulation of glucose mediated signaling pathway GO:1902661 8.62 SMARCA4 SMARCB1

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.73 DES EWSR1 IGF1R STIM1 SYP VIM
2 Tat protein binding GO:0030957 9.16 SMARCA4 SMARCB1
3 p53 binding GO:0002039 9.13 MUC1 SMARCA4 SMARCB1
4 RNA polymerase I CORE element sequence-specific DNA binding GO:0001164 8.62 SMARCA4 SMARCB1

Sources for Rhabdoid Cancer

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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36 KEGG
37 LifeMap
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65 SNOMED-CT via HPO
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