RTPS2
MCID: RHB011
MIFTS: 28

Rhabdoid Tumor Predisposition Syndrome 2 (RTPS2)

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

Aliases & Classifications for Rhabdoid Tumor Predisposition Syndrome 2

MalaCards integrated aliases for Rhabdoid Tumor Predisposition Syndrome 2:

Name: Rhabdoid Tumor Predisposition Syndrome 2 57 72 29 13 6 70
Rtps2 57 72
Tumor, Rhabdoid, Predisposition Syndrome, Type 2 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
increased risk of developing early-onset aggressive cancers


HPO:

31
rhabdoid tumor predisposition syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 613325
OMIM Phenotypic Series 57 PS609322
MeSH 44 D018335
MedGen 41 C2750074
SNOMED-CT via HPO 68 126951006 263681008 68453008
UMLS 70 C2750074

Summaries for Rhabdoid Tumor Predisposition Syndrome 2

OMIM® : 57 Rhabdoid tumor predisposition syndrome-2 is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by Foulkes et al., 2014). See also RTPS1 (609322), which is caused by mutation in the SMARCB1 gene (601607) on chromosome 22q11. (613325) (Updated 20-May-2021)

MalaCards based summary : Rhabdoid Tumor Predisposition Syndrome 2, also known as rtps2, is related to rhabdoid cancer. An important gene associated with Rhabdoid Tumor Predisposition Syndrome 2 is SMARCA4 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4). Affiliated tissues include ovary, and related phenotypes are neoplasm of the central nervous system and carcinoma

UniProtKB/Swiss-Prot : 72 Rhabdoid tumor predisposition syndrome 2: A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood.

Related Diseases for Rhabdoid Tumor Predisposition Syndrome 2

Diseases in the Rhabdoid Tumor Predisposition Syndrome 1 family:

Rhabdoid Tumor Predisposition Syndrome 2

Diseases related to Rhabdoid Tumor Predisposition Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rhabdoid cancer 11.6

Symptoms & Phenotypes for Rhabdoid Tumor Predisposition Syndrome 2

Human phenotypes related to Rhabdoid Tumor Predisposition Syndrome 2:

31
# Description HPO Frequency HPO Source Accession
1 neoplasm of the central nervous system 31 HP:0100006
2 carcinoma 31 HP:0030731

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neoplasia:
rhabdoid tumors, malignant
small cell carcinoma of the ovary, hypercalcemic type

Clinical features from OMIM®:

613325 (Updated 20-May-2021)

Drugs & Therapeutics for Rhabdoid Tumor Predisposition Syndrome 2

Search Clinical Trials , NIH Clinical Center for Rhabdoid Tumor Predisposition Syndrome 2

Genetic Tests for Rhabdoid Tumor Predisposition Syndrome 2

Genetic tests related to Rhabdoid Tumor Predisposition Syndrome 2:

# Genetic test Affiliating Genes
1 Rhabdoid Tumor Predisposition Syndrome 2 29 SMARCA4

Anatomical Context for Rhabdoid Tumor Predisposition Syndrome 2

MalaCards organs/tissues related to Rhabdoid Tumor Predisposition Syndrome 2:

40
Ovary

Publications for Rhabdoid Tumor Predisposition Syndrome 2

Articles related to Rhabdoid Tumor Predisposition Syndrome 2:

(show all 16)
# Title Authors PMID Year
1
Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4. 57 6
24658001 2014
2
Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. 57 6
24658002 2014
3
Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again. 57 6
23775540 2013
4
Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. 57 6
20137775 2010
5
Familial small cell carcinoma of the ovary. 6 57
19621450 2009
6
Immature teratomas of different origin carried by a pregnant mother and her fetus. 57 6
8269278 1993
7
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type. 6
28608987 2017
8
No small surprise - small cell carcinoma of the ovary, hypercalcaemic type, is a malignant rhabdoid tumour. 57
24752781 2014
9
Recurrent SMARCA4 mutations in small cell carcinoma of the ovary. 57
24658004 2014
10
Ovarian small cell carcinoma of hypercalcemic type - evidence of germline origin and SMARCA4 gene inactivation. a pilot study. 57
24375037 2013
11
Small cell carcinoma of the ovary of hypercalcemic type: a case report. 6
22424359 2012
12
Familial cluster of ovarian small cell carcinoma: a new mendelian entity? 57
8730291 1996
13
Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group. 61
33532948 2021
14
Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management. 61
33692948 2021
15
[The pathology of hereditary ovarian tumors]. 61
32178889 2020
16
Rhabdoid tumor predisposition syndrome. 61
25494491 2015

Variations for Rhabdoid Tumor Predisposition Syndrome 2

ClinVar genetic disease variations for Rhabdoid Tumor Predisposition Syndrome 2:

6 (show top 50) (show all 1997)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMARCA4 NM_001128849.2(SMARCA4):c.3565C>T (p.Arg1189Ter) SNV Pathogenic 6554 rs267607070 GRCh37: 19:11143984-11143984
GRCh38: 19:11033308-11033308
2 SMARCA4 NM_001128849.2(SMARCA4):c.2922del (p.Phe975fs) Deletion Pathogenic 212245 rs797045980 GRCh37: 19:11134254-11134254
GRCh38: 19:11023578-11023578
3 SMARCA4 NM_001128849.2(SMARCA4):c.3480dup (p.Leu1161fs) Duplication Pathogenic 212249 rs797045982 GRCh37: 19:11141497-11141498
GRCh38: 19:11030821-11030822
4 SMARCA4 NM_001128849.2(SMARCA4):c.4763del (p.Val1588fs) Deletion Pathogenic 212258 rs797045987 GRCh37: 19:11170460-11170460
GRCh38: 19:11059784-11059784
5 SMARCA4 NM_003072.4(SMARCA4):c.3239G>A (p.Gly1080Asp) SNV Pathogenic 139443 rs587777464 GRCh37: 19:11138483-11138483
GRCh38: 19:11027807-11027807
6 SMARCA4 NM_003072.4(SMARCA4):c.2617-3C>G SNV Pathogenic 139442 rs587777463 GRCh37: 19:11132398-11132398
GRCh38: 19:11021722-11021722
7 SMARCA4 NM_003072.4(SMARCA4):c.643C>T (p.Gln215Ter) SNV Pathogenic 139441 rs587777462 GRCh37: 19:11097152-11097152
GRCh38: 19:10986476-10986476
8 SMARCA4 NM_003072.4(SMARCA4):c.4170+1G>A SNV Pathogenic 139440 rs587777461 GRCh37: 19:11145809-11145809
GRCh38: 19:11035133-11035133
9 SMARCA4 NM_003072.4(SMARCA4):c.3533G>A (p.Trp1178Ter) SNV Pathogenic 139439 rs587777460 GRCh37: 19:11141556-11141556
GRCh38: 19:11030880-11030880
10 SMARCA4 NM_001128849.2(SMARCA4):c.4339C>T (p.Arg1447Ter) SNV Pathogenic 238464 rs878854224 GRCh37: 19:11152055-11152055
GRCh38: 19:11041379-11041379
11 SMARCA4 NC_000019.10:g.(?_10984121)_(11062282_?)del Deletion Pathogenic 417442 GRCh37: 19:11094797-11172958
GRCh38: 19:10984121-11062282
12 SMARCA4 NM_003072.4(SMARCA4):c.662del (p.Pro221fs) Deletion Pathogenic 408653 rs1060502085 GRCh37: 19:11097170-11097170
GRCh38: 19:10986494-10986494
13 SMARCA4 NM_003072.5(SMARCA4):c.1155_1157del (p.Glu386del) Deletion Pathogenic 438797 rs1555756326 GRCh37: 19:11100029-11100031
GRCh38: 19:10989353-10989355
14 SMARCA4 NM_003072.4(SMARCA4):c.300_301del (p.Gly102fs) Deletion Pathogenic 470331 rs780424104 GRCh37: 19:11096026-11096027
GRCh38: 19:10985350-10985351
15 SMARCA4 NC_000019.10:g.(?_11018951)_(11030899_?)del Deletion Pathogenic 470218 GRCh37: 19:11129627-11141575
GRCh38: 19:11018951-11030899
16 SMARCA4 NM_003072.4(SMARCA4):c.982_986del (p.Pro328fs) Deletion Pathogenic 537779 rs1555755067 GRCh37: 19:11098462-11098466
GRCh38: 19:10987786-10987790
17 SMARCA4 NM_001128849.2(SMARCA4):c.1408C>T (p.Gln470Ter) SNV Pathogenic 537800 rs1555757738 GRCh37: 19:11101988-11101988
GRCh38: 19:10991312-10991312
18 SMARCA4 NM_001128849.2(SMARCA4):c.823C>T (p.Gln275Ter) SNV Pathogenic 537803 rs1555754293 GRCh37: 19:11097643-11097643
GRCh38: 19:10986967-10986967
19 SMARCA4 NM_001128849.2(SMARCA4):c.1831C>T (p.Gln611Ter) SNV Pathogenic 567436 rs1568455217 GRCh37: 19:11113723-11113723
GRCh38: 19:11003047-11003047
20 SMARCA4 NM_001128849.2(SMARCA4):c.4567C>T (p.Arg1523Ter) SNV Pathogenic 567464 rs758517117 GRCh37: 19:11168977-11168977
GRCh38: 19:11058301-11058301
21 SMARCA4 NM_003072.4(SMARCA4):c.2329del (p.Leu777fs) Deletion Pathogenic 537835 rs1555774702 GRCh37: 19:11123678-11123678
GRCh38: 19:11013002-11013002
22 SMARCA4 NM_001128849.2(SMARCA4):c.2164C>T (p.Gln722Ter) SNV Pathogenic 537814 rs1555773269 GRCh37: 19:11121097-11121097
GRCh38: 19:11010421-11010421
23 SMARCA4 NM_001128849.2(SMARCA4):c.4756C>T (p.Gln1586Ter) SNV Pathogenic 537813 rs1555795884 GRCh37: 19:11170453-11170453
GRCh38: 19:11059777-11059777
24 SMARCA4 NM_001128849.2(SMARCA4):c.493C>T (p.Gln165Ter) SNV Pathogenic 574179 rs1568422286 GRCh37: 19:11097002-11097002
GRCh38: 19:10986326-10986326
25 SMARCA4 NM_001128849.2(SMARCA4):c.229G>T (p.Glu77Ter) SNV Pathogenic 580699 rs1568419675 GRCh37: 19:11095955-11095955
GRCh38: 19:10985279-10985279
26 SMARCA4 NC_000019.10:g.(?_11018947)_(11030903_?)del Deletion Pathogenic 584068 GRCh37: 19:11129623-11141579
GRCh38: 19:11018947-11030903
27 SMARCA4 NM_001128849.2(SMARCA4):c.1754_1757del (p.Lys585fs) Deletion Pathogenic 640321 rs1555763780 GRCh37: 19:11107048-11107051
GRCh38: 19:10996372-10996375
28 SMARCA4 NM_001128849.2(SMARCA4):c.2932C>T (p.Arg978Ter) SNV Pathogenic 639395 rs1064796254 GRCh37: 19:11134266-11134266
GRCh38: 19:11023590-11023590
29 SMARCA4 NM_001128849.2(SMARCA4):c.2032C>T (p.Gln678Ter) SNV Pathogenic 486489 rs1555771571 GRCh37: 19:11118608-11118608
GRCh38: 19:11007932-11007932
30 SMARCA4 NM_001128849.2(SMARCA4):c.4834G>T (p.Glu1612Ter) SNV Pathogenic 664097 rs1600644640 GRCh37: 19:11170531-11170531
GRCh38: 19:11059855-11059855
31 SMARCA4 NM_001128849.2(SMARCA4):c.1189C>T (p.Arg397Ter) SNV Pathogenic 661795 rs1295192121 GRCh37: 19:11100063-11100063
GRCh38: 19:10989387-10989387
32 SMARCA4 NM_003072.5(SMARCA4):c.1243C>T (p.Gln415Ter) SNV Pathogenic 835142 GRCh37: 19:11100117-11100117
GRCh38: 19:10989441-10989441
33 SMARCA4 NM_003072.5(SMARCA4):c.3169G>T (p.Glu1057Ter) SNV Pathogenic 839007 GRCh37: 19:11136976-11136976
GRCh38: 19:11026300-11026300
34 SMARCA4 NM_003072.5(SMARCA4):c.2292G>A (p.Trp764Ter) SNV Pathogenic 846208 GRCh37: 19:11123642-11123642
GRCh38: 19:11012966-11012966
35 SMARCA4 NM_003072.5(SMARCA4):c.916C>T (p.Gln306Ter) SNV Pathogenic 844961 GRCh37: 19:11098398-11098398
GRCh38: 19:10987722-10987722
36 SMARCA4 NM_003072.5(SMARCA4):c.1543C>T (p.Gln515Ter) SNV Pathogenic 854522 GRCh37: 19:11105627-11105627
GRCh38: 19:10994951-10994951
37 SMARCA4 NM_003072.5(SMARCA4):c.1681del (p.Val561fs) Deletion Pathogenic 855568 GRCh37: 19:11106976-11106976
GRCh38: 19:10996300-10996300
38 SMARCA4 NM_003072.5(SMARCA4):c.1567G>T (p.Glu523Ter) SNV Pathogenic 861178 GRCh37: 19:11105651-11105651
GRCh38: 19:10994975-10994975
39 SMARCA4 NM_003072.5(SMARCA4):c.3559C>T (p.Gln1187Ter) SNV Pathogenic 823926 rs1600389034 GRCh37: 19:11143978-11143978
GRCh38: 19:11033302-11033302
40 SMARCA4 NM_003072.5(SMARCA4):c.3809_3825dup (p.Pro1276fs) Duplication Pathogenic 854412 GRCh37: 19:11144476-11144477
GRCh38: 19:11033800-11033801
41 SMARCA4 NM_003072.5(SMARCA4):c.365C>A (p.Ser122Ter) SNV Pathogenic 861042 GRCh37: 19:11096874-11096874
GRCh38: 19:10986198-10986198
42 SMARCA4 NM_003072.5(SMARCA4):c.1680C>G (p.Tyr560Ter) SNV Pathogenic 940629 GRCh37: 19:11106975-11106975
GRCh38: 19:10996299-10996299
43 SMARCA4 NM_003072.5(SMARCA4):c.3033dup (p.Gln1012fs) Duplication Pathogenic 933950 GRCh37: 19:11135065-11135066
GRCh38: 19:11024389-11024390
44 SMARCA4 NM_003072.5(SMARCA4):c.2935C>T (p.Arg979Ter) SNV Pathogenic 967403 GRCh37: 19:11134269-11134269
GRCh38: 19:11023593-11023593
45 SMARCA4 NM_003072.5(SMARCA4):c.4600C>T (p.Gln1534Ter) SNV Pathogenic 939670 GRCh37: 19:11169530-11169530
GRCh38: 19:11058854-11058854
46 SMARCA4 NM_001128849.2(SMARCA4):c.1141C>T (p.Arg381Ter) SNV Pathogenic 470230 rs972341316 GRCh37: 19:11100015-11100015
GRCh38: 19:10989339-10989339
47 SMARCA4 NM_003072.5(SMARCA4):c.2124-2A>G SNV Likely pathogenic 964059 GRCh37: 19:11121055-11121055
GRCh38: 19:11010379-11010379
48 SMARCA4 NM_003072.5(SMARCA4):c.761-2A>T SNV Likely pathogenic 827153 rs1479379455 GRCh37: 19:11097579-11097579
GRCh38: 19:10986903-10986903
49 SMARCA4 NM_003072.5(SMARCA4):c.3422_3427delinsTCTTCT (p.Thr1141_Asn1143delinsIlePheTyr) Indel Likely pathogenic 972043 GRCh37: 19:11141445-11141450
GRCh38: 19:11030769-11030774
50 SMARCA4 NM_003072.5(SMARCA4):c.1101_1119-550del Deletion Likely pathogenic 936774 GRCh37: 19:11098579-11099439
GRCh38: 19:10987903-10988763

Cosmic variations for Rhabdoid Tumor Predisposition Syndrome 2:

9 (show top 50) (show all 1211)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87175432 ZNF710 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.1312C>T p.L438F 15:90068449-90068449 6
2 COSM93714833 ZDHHC8 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.1943C>A p.A648D 22:20143573-20143573 6
3 COSM106402894 ZDHHC8 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.1943C>A p.A648D 22:20143573-20143573 6
4 COSM90639048 ZDHHC8 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.1667C>A p.A556D 22:20143573-20143573 6
5 COSM84685362 USP44 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.1574C>G p.T525R 12:95528857-95528857 6
6 COSM135019807 USP44 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.1428+3972C>G p.? 12:95528857-95528857 6
7 COSM133619403 USP44 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.1574C>G p.T525R 12:95528857-95528857 6
8 COSM100057258 USP44 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.1574C>G p.T525R 12:95528857-95528857 6
9 COSM143944155 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.367C>T p.R123W 17:7673776-7673776 6
10 COSM87907024 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.799C>T p.R267W 17:7673821-7673821 6
11 COSM144087106 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.266G>A p.R89Q 17:7674220-7674220 6
12 COSM145017746 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.419A>G p.H140R 17:7675076-7675076 6
13 COSM144309944 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.407G>A p.R136H 17:7675088-7675088 6
14 COSM144021827 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.440G>A p.R147H 17:7675139-7675139 6
15 COSM121875983 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.347G>A p.R116Q 17:7674220-7674220 6
16 COSM106053434 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.742C>T p.R248W 17:7674221-7674221 6
17 COSM145024458 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.425G>A p.R142H 17:7675070-7675070 6
18 COSM142837497 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.733G>A p.G245S 17:7674230-7674230 6
19 COSM142842863 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.799C>T p.R267W 17:7673821-7673821 6
20 COSM144087230 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.256G>A p.G86S 17:7674230-7674230 6
21 COSM144097017 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.-101A>G p.? 17:7675235-7675235 6
22 COSM93191517 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.799C>T p.R267W 17:7673821-7673821 6
23 COSM122734399 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.346C>T p.R116W 17:7674221-7674221 6
24 COSM111758883 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.817C>T p.R273C 17:7673803-7673803 6
25 COSM122277714 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.146G>A p.R49H 17:7675070-7675070 6
26 COSM142837411 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.536A>G p.H179R 17:7675076-7675076 6
27 COSM122734176 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.347G>A p.R116Q 17:7674220-7674220 6
28 COSM93184014 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.817C>T p.R273C 17:7673803-7673803 6
29 COSM143377232 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.425G>A p.R142H 17:7675070-7675070 6
30 COSM106053362 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.733G>A p.G245S 17:7674230-7674230 6
31 COSM121885286 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.403C>T p.R135W 17:7673821-7673821 6
32 COSM105619974 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.725G>A p.C242Y 17:7674238-7674238 6
33 COSM122734244 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.140A>G p.H47R 17:7675076-7675076 6
34 COSM87948745 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.476C>A p.A159D 17:7675136-7675136 6
35 COSM142560569 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.700C>T p.R234C 17:7673803-7673803 6
36 COSM112253124 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.524G>A p.R175H 17:7675088-7675088 6
37 COSM111758247 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.524G>A p.R175H 17:7675088-7675088 6
38 COSM111758576 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.743G>A p.R248Q 17:7674220-7674220 6
39 COSM143943797 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.266G>A p.R89Q 17:7674220-7674220 6
40 COSM93183975 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.742C>T p.R248W 17:7674221-7674221 6
41 COSM144310203 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.626G>A p.R209Q 17:7674220-7674220 6
42 COSM87898351 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.743G>A p.R248Q 17:7674220-7674220 6
43 COSM144651115 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.626G>A p.R209Q 17:7674220-7674220 6
44 COSM145017657 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.626G>A p.R209Q 17:7674220-7674220 6
45 COSM144310268 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.419A>G p.H140R 17:7675076-7675076 6
46 COSM106053189 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.743G>A p.R248Q 17:7674220-7674220 6
47 COSM122734408 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.421C>T p.R141C 17:7673803-7673803 6
48 COSM143950313 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.322C>T p.R108W 17:7673821-7673821 6
49 COSM122780910 TP53 central nervous system,NS,primitive neuroectodermal tumour-medulloblastoma,classic c.80C>A p.A27D 17:7675136-7675136 6
50 COSM144013178 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.692G>A p.C231Y 17:7674238-7674238 6

Expression for Rhabdoid Tumor Predisposition Syndrome 2

Search GEO for disease gene expression data for Rhabdoid Tumor Predisposition Syndrome 2.

Pathways for Rhabdoid Tumor Predisposition Syndrome 2

GO Terms for Rhabdoid Tumor Predisposition Syndrome 2

Sources for Rhabdoid Tumor Predisposition Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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30 HMDB
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