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MCID: ATY005
MIFTS: 62

Atypical Teratoid Rhabdoid Tumor

Categories: Rare diseases, Cancer diseases, Neuronal diseases, Genetic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Atypical Teratoid Rhabdoid Tumor

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MalaCards integrated aliases for Atypical Teratoid Rhabdoid Tumor:

Name: Atypical Teratoid Rhabdoid Tumor 12 15
Rhabdoid Tumor Predisposition Syndrome 12 24 25 59 73
Atypical Teratoid/rhabdoid Tumor 12 6 73
Rhabdoid Predisposition Syndrome 24 25 37
Rtps 24 25 59
Familial Rhabdoid Tumor 25 59
Familial Posterior Fossa Brain Tumor of Infancy 25
Familial Posterior Fossa Brain Tumor Syndrome 25
Hereditary Swi/snf Deficiency Syndrome 25
Rhabdoid Tumor of the Cns 12
at/rt 12

Characteristics:

Orphanet epidemiological data:

59
familial rhabdoid tumor
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

GeneReviews:

24
Penetrance Smarca4. most individuals with smarca4-related rtps have inherited the pathogenic variant from an unaffected, healthy parent. in smarca4-related rtps the penetrance for rhabdoid tumor in the preceding generation of seven informative families was zero. however, in one family, two sibs with a smarca4 pathogenic variant were both affected [schneppenheim et al 2010, hasselblatt et al 2014]...

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases Genetic diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 34


Sources

Summaries for Atypical Teratoid Rhabdoid Tumor

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Genetics Home Reference : 25 Rhabdoid tumor predisposition syndrome (RTPS) is characterized by a high risk of developing cancerous (malignant) growths called rhabdoid tumors. These highly aggressive tumors are called rhabdoid because their cells resemble rhabdomyoblasts, which are cells that are normally found in embryos before birth and develop into muscles used for movement (skeletal muscles).

MalaCards based summary : Atypical Teratoid Rhabdoid Tumor, also known as rhabdoid tumor predisposition syndrome, is related to rhabdoid cancer and pineocytoma. An important gene associated with Atypical Teratoid Rhabdoid Tumor is TP53 (Tumor Protein P53), and among its related pathways/superpathways are ERK Signaling and PI3K-Akt signaling pathway. The drugs Carboplatin and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and kidney, and related phenotypes are hydrocephalus and macrocephaly

Disease Ontology : 12 A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system.

Wikipedia : 76 An atypical teratoid rhabdoid tumor (AT/RT) is a rare tumor usually diagnosed in childhood. Although... more...

GeneReviews: NBK469816
Sources

Related Diseases for Atypical Teratoid Rhabdoid Tumor

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

(show top 50) (show all 269)
# Related Disease Score Top Affiliating Genes
1 rhabdoid cancer 31.9 ACTC1 DES IGF1R IGF2 MUC1 SMARCB1
2 pineocytoma 31.3 GFAP S100B SYP
3 dysembryoplastic neuroepithelial tumor 30.9 GFAP S100B SYP
4 nodular medulloblastoma 30.9 CTNNB1 GFAP SMARCB1
5 ectomesenchymoma 30.6 DES HMGA2
6 choroid plexus cancer 30.2 GFAP SMARCB1 TP53
7 pleomorphic xanthoastrocytoma 30.0 GFAP SMARCB1 SYP TP53
8 small cell carcinoma 29.8 SMARCA4 SYP TP53
9 ganglioglioma 29.6 GFAP S100B SMARCB1 SYP TP53
10 ependymoma 29.3 GFAP HOTAIR MUC1 S100B SYP VIM
11 chordoma 28.4 DES GFAP MUC1 S100B SMARCB1 TP53
12 ewing sarcoma 26.6 CCND1 DES GFAP IGF1R IGF2 S100B
13 medulloblastoma 26.2 AURKA CCND1 CTNNB1 DES GFAP HOTAIR
14 rhabdoid tumor predisposition syndrome 1 11.5
15 rhabdoid tumor predisposition syndrome 2 11.3
16 lymphangiectasis 11.0 ACTC1 VIM
17 ovarian fibrothecoma 11.0 ACTC1 DES
18 infantile digital fibromatosis 11.0 DES VIM
19 fibroblastic rheumatism 11.0 ACTC1 DES
20 anaplastic ganglioglioma 10.9 ACTC1 GFAP
21 gliomatosis peritonei 10.9 DES GFAP
22 glomangiomyoma 10.9 ACTC1 VIM
23 localized hypertrophic neuropathy 10.9 MUC1 S100B
24 sclerosing perineurioma 10.9 MUC1 S100B
25 lymphangiomatosis 10.9 DES VIM
26 intravascular papillary endothelial hyperplasia 10.9 ACTC1 VIM
27 desmoplastic infantile ganglioglioma 10.9 GFAP SYP
28 extraventricular neurocytoma 10.9 GFAP SYP
29 hydromyelia 10.9 S100B VIM
30 reticular perineurioma 10.9 MUC1 S100B
31 central nervous system sarcoma 10.9 SMARCA4 SMARCB1
32 melanotic medulloblastoma 10.9 GFAP SMARCB1
33 botryoid rhabdomyosarcoma 10.8 ACTC1 DES
34 lung combined type small cell carcinoma 10.8 GFAP SYP
35 sinonasal undifferentiated carcinoma 10.8 MUC1 SYP
36 malignant giant cell tumor of soft parts 10.8 ACTC1 S100B
37 spindle cell thymoma 10.8 DES MUC1
38 bednar tumor 10.8 S100B VIM
39 malignant iris melanoma 10.8 CCND1 S100B
40 angiolipoma 10.8 ACTC1 DES VIM
41 malignant triton tumor 10.8 DES S100B
42 malignant peritoneal mesothelioma 10.8 MUC1 VIM
43 adenofibroma 10.8 ACTC1 MUC1 VIM
44 spindle cell lipoma 10.8 ACTC1 DES VIM
45 epithelioid leiomyosarcoma 10.8 ACTC1 DES VIM
46 benign metastasizing leiomyoma 10.8 ACTC1 DES VIM
47 chondroid chordoma 10.8 MUC1 SMARCB1 VIM
48 congenital fibrosarcoma 10.8 ACTC1 DES VIM
49 biphasic synovial sarcoma 10.8 DES MUC1 VIM
50 epithelioid malignant peripheral nerve sheath tumor 10.8 MUC1 S100B SMARCB1

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



Diseases related to Atypical Teratoid Rhabdoid Tumor
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Symptoms & Phenotypes for Atypical Teratoid Rhabdoid Tumor

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Human phenotypes related to Atypical Teratoid Rhabdoid Tumor:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 frequent (33%) HP:0000238
2 macrocephaly 32 frequent (33%) HP:0000256
3 irritability 32 hallmark (90%) HP:0000737
4 apathy 32 hallmark (90%) HP:0000741
5 seizures 32 frequent (33%) HP:0001250
6 ataxia 32 frequent (33%) HP:0001251
7 muscle weakness 32 frequent (33%) HP:0001324
8 limitation of joint mobility 32 frequent (33%) HP:0001376
9 nausea and vomiting 32 hallmark (90%) HP:0002017
10 migraine 32 frequent (33%) HP:0002076
11 cerebral calcification 32 occasional (7.5%) HP:0002514
12 reduced consciousness/confusion 32 frequent (33%) HP:0004372
13 hemiplegia/hemiparesis 32 frequent (33%) HP:0004374
14 cranial nerve paralysis 32 occasional (7.5%) HP:0006824
15 cerebral palsy 32 occasional (7.5%) HP:0100021
16 malignant neoplasm of the central nervous system 32 hallmark (90%) HP:0100836

GenomeRNAi Phenotypes related to Atypical Teratoid Rhabdoid Tumor according to GeneCards Suite gene sharing:

26 (show all 37)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.98 SMARCA4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.98 VIM
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.98 SMARCA4 CTNNB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.98 CTNNB1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.98 IGF1R
6 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.98 CCND1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.98 IGF1R
8 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.98 VIM
9 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.98 CCND1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.98 CCND1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.98 CCND1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.98 IGF1R
13 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.98 SMARCA4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.98 VIM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.98 IGF1R SMARCA4 CCND1 CTNNB1 VIM
16 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.98 VIM
17 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.98 VIM
18 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.98 CTNNB1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.98 IGF1R CCND1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.98 CCND1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.98 CCND1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.98 IGF1R
23 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.98 CCND1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.98 VIM
25 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.98 VIM
26 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.98 CCND1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.98 IGF1R
28 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.98 CTNNB1 IGF1R
29 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.98 CTNNB1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.98 VIM
31 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.98 CTNNB1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.98 CTNNB1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.98 IGF1R CTNNB1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.98 CTNNB1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.98 IGF1R SMARCA4 VIM
36 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.98 SMARCA4
37 Decreased cell migration GR00055-A-1 9.35 IGF1R AURKA MUC1 CTNNB1 VIM

MGI Mouse Phenotypes related to Atypical Teratoid Rhabdoid Tumor:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.38 DES ACTC1 CTNNB1 AURKA CCND1 SMARCA4
2 behavior/neurological MP:0005386 10.36 DES CTNNB1 CCND1 GFAP IGF2 IGF1R
3 cardiovascular system MP:0005385 10.35 DES GFAP ACTC1 CTNNB1 CCND1 SMARCA4
4 homeostasis/metabolism MP:0005376 10.31 DES ACTC1 CTNNB1 CCND1 SMARCA4 GFAP
5 growth/size/body region MP:0005378 10.26 CCND1 ACTC1 AURKA CTNNB1 IGF1R GFAP
6 mortality/aging MP:0010768 10.22 DES ACTC1 CTNNB1 AURKA CCND1 SMARCA4
7 hematopoietic system MP:0005397 10.21 CCND1 AURKA CTNNB1 IGF1R IGF2 SMARCB1
8 immune system MP:0005387 10.18 CCND1 CTNNB1 IGF1R GFAP IGF2 SMARCB1
9 digestive/alimentary MP:0005381 10.15 CCND1 CTNNB1 SMARCA4 GFAP IGF2 IGF1R
10 embryo MP:0005380 10.14 AURKA CTNNB1 IGF1R IGF2 TP53 SMARCA4
11 muscle MP:0005369 10.11 GFAP ACTC1 CTNNB1 DES IGF2 IGF1R
12 craniofacial MP:0005382 10.1 CCND1 CTNNB1 IGF2 IGF1R TP53 SMARCA4
13 integument MP:0010771 10.06 CCND1 CTNNB1 IGF1R IGF2 S100B SMARCA4
14 nervous system MP:0003631 10 CCND1 CTNNB1 GFAP IGF2 IGF1R TP53
15 liver/biliary system MP:0005370 9.98 CTNNB1 IGF1R IGF2 SMARCA4 SPP1 SMARCB1
16 neoplasm MP:0002006 9.92 CTNNB1 AURKA CCND1 SMARCA4 IGF1R SPP1
17 normal MP:0002873 9.76 CCND1 ACTC1 CTNNB1 GFAP S100B SMARCA4
18 respiratory system MP:0005388 9.56 CTNNB1 CCND1 SMARCA4 IGF2 IGF1R TP53
19 vision/eye MP:0005391 9.23 CCND1 CTNNB1 GFAP IGF2 TP53 SMARCA4
Sources

Drugs & Therapeutics for Atypical Teratoid Rhabdoid Tumor

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Drugs for Atypical Teratoid Rhabdoid Tumor (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 153)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 41575-94-4 10339178 498142 38904
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 50-18-0, 6055-19-2 2907
3
Etoposide Approved Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1,Not Applicable 33419-42-0 36462
4
Melphalan Approved Phase 2, Phase 3,Phase 1,Not Applicable 148-82-3 4053 460612
5
Thiotepa Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 52-24-4 5453
6
Cisplatin Approved Phase 3,Phase 2,Phase 1 15663-27-1 84093 441203 2767
7
Lenograstim Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 135968-09-1
8
Methotrexate Approved Phase 3,Phase 2,Phase 1,Early Phase 1 1959-05-2, 59-05-2 126941
9
Temozolomide Approved, Investigational Phase 3,Phase 2,Phase 1 85622-93-1 5394
10
Vincristine Approved, Investigational Phase 3,Phase 2,Phase 1 2068-78-2, 57-22-7 5978
11
Dactinomycin Approved, Investigational Phase 3,Phase 2 50-76-0 2019 457193
12
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
13
Sulfamethoxazole Approved Phase 3 723-46-6 5329
14
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
15
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
16
Levoleucovorin Approved, Investigational Phase 3,Phase 2,Early Phase 1 68538-85-2
17
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Phase 1,Early Phase 1 59-30-3 6037
18
leucovorin Approved, Nutraceutical Phase 3,Phase 2,Phase 1,Early Phase 1 58-05-9 143 6006
19
Doxil Approved June 1999 Phase 3,Phase 2 31703
20 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
21 Etoposide phosphate Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1,Not Applicable
22 Alkylating Agents Phase 3,Phase 2,Phase 1,Not Applicable
23 Antimetabolites Phase 3,Phase 2,Phase 1,Early Phase 1
24 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1,Early Phase 1
25 Antimitotic Agents Phase 3,Phase 2,Phase 1,Not Applicable
26 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1,Not Applicable
27 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
28 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Early Phase 1
29 Dermatologic Agents Phase 3,Phase 2,Phase 1,Early Phase 1
30 Folic Acid Antagonists Phase 3,Phase 2,Phase 1,Early Phase 1
31 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
32 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2,Phase 1,Early Phase 1
33 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
34 Vitamin B Complex Phase 3,Phase 2,Phase 1,Early Phase 1
35 Adjuvants, Immunologic Phase 3,Phase 2,Phase 1,Not Applicable
36 Liver Extracts Phase 3,Phase 1,Phase 2,Not Applicable
37 Protective Agents Phase 3,Phase 2,Phase 1,Not Applicable
38 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
39 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
40 Anti-Infective Agents Phase 3,Phase 2,Phase 1
41 Adjuvants, Anesthesia Phase 3
42 Analgesics Phase 3
43 Analgesics, Opioid Phase 3
44 Anesthetics Phase 3
45 Anesthetics, General Phase 3
46 Anesthetics, Intravenous Phase 3
47 Central Nervous System Depressants Phase 3
48 Narcotics Phase 3
49 Peripheral Nervous System Agents Phase 3,Phase 1
50 Antidotes Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 88)
# Name Status NCT ID Phase Drugs
1 Stem Cell Transplant for High Risk Central Nervous System (CNS) Tumors Unknown status NCT00179803 Phase 2, Phase 3
2 Combination Chemotherapy With or Without Etoposide Followed By an Autologous Stem Cell Transplant in Treating Young Patients With Previously Untreated Malignant Brain Tumors Unknown status NCT00392886 Phase 3 carboplatin;cisplatin;cyclophosphamide;etoposide;methotrexate;temozolomide;thiotepa;vincristine sulfate
3 Chemotherapy With or Without Surgery, Radiation Therapy, or Stem Cell Transplantation in Treating Young Patients With Kidney Tumors Completed NCT00002610 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
4 Combination Chemotherapy and Surgery in Treating Young Patients With Wilms Tumor Completed NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate
5 Combination Chemotherapy Followed by Second-Look Surgery and Radiation Therapy in Treating Children With Nonmetastatic Medulloblastoma or Primitive Neuroectodermal Tumor Completed NCT00006461 Phase 3 cisplatin;cyclophosphamide;vincristine sulfate;etoposide
6 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
7 Combination Chemotherapy Alone or With Radiation Therapy in Treating Children With Kidney Cancer Completed NCT00002611 Phase 3 cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
8 Treatment of Patients With Newly Diagnosed Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, or Atypical Teratoid Rhabdoid Tumor Active, not recruiting NCT00085202 Phase 3 cisplatin;cyclophosphamide;vincristine
9 Combination Chemotherapy, Radiation Therapy, and an Autologous Peripheral Blood Stem Cell Transplant in Treating Young Patients With Atypical Teratoid/Rhabdoid Tumor of the Central Nervous System Active, not recruiting NCT00653068 Phase 3 methotrexate;leucovorin calcium;etoposide;cyclophosphamide;cisplatin;carboplatin;thiotepa;vincristine sulfate
10 Oxaliplatin in Treating Children With Recurrent or Refractory Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, or Atypical Teratoid Rhabdoid Tumor Completed NCT00047177 Phase 2 Oxaliplatin
11 Chemotherapy Combined With Radiation Therapy for Newly Diagnosed CNS AT/RT Completed NCT00084838 Phase 2 cisplatin;cyclophosphamide;cytarabine;dexrazoxane hydrochloride;doxorubicin hydrochloride;etoposide;leucovorin calcium;methotrexate;temozolomide;therapeutic hydrocortisone;vincristine sulfate;Dactinomycin
12 Combination Chemotherapy, Radiation Therapy, and/or Surgery in Treating Patients With High-Risk Kidney Tumors Completed NCT00335556 Phase 2 Doxorubicin Hydrochloride;Irinotecan Hydrochloride;Cyclophosphamide;Etoposide;Carboplatin;Vincristine Sulfate
13 Chemotherapy in Treating Patients With Solid Tumors Completed NCT00003103 Phase 1, Phase 2 docetaxel
14 Phase 2 Study of Alisertib Therapy for Rhabdoid Tumors Recruiting NCT02114229 Phase 2 alisertib;methotrexate;cisplatin;carboplatin;cyclophosphamide;etoposide;topotecan;vincristine
15 A Phase II, Multicenter Study of the EZH2 Inhibitor Tazemetostat in Adult Subjects With INI1-Negative Tumors or Relapsed/Refractory Synovial Sarcoma Recruiting NCT02601950 Phase 2 Tazemetostat
16 Stereotactic Body Radiotherapy (SBRT) for Pulmonary Metastases in Ewing Sarcoma, Rhabdomyosarcoma, and Wilms Tumors Recruiting NCT02581384 Phase 1, Phase 2
17 Tazemetostat Rollover Study (TRuST): An Open-Label Rollover Study Recruiting NCT02875548 Phase 2 Tazemetostat
18 Phase II Study of Intraventricular Methotrexate in Children With Recurrent or Progressive Malignant Brain Tumors Recruiting NCT02684071 Phase 2 Intra thecal methotrexate;topotecan;cyclophosphamide
19 Palbociclib in Treating Patients With Relapsed or Refractory Rb Positive Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Activating Alterations in Cell Cycle Genes (A Pediatric MATCH Treatment Trial) Recruiting NCT03526250 Phase 2 Palbociclib
20 Olaparib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Defects in DNA Damage Repair Genes (A Pediatric MATCH Treatment Trial) Recruiting NCT03233204 Phase 2 Olaparib
21 Vemurafenib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With BRAF V600 Mutations (A Pediatric MATCH Treatment Trial) Recruiting NCT03220035 Phase 2 Vemurafenib
22 Larotrectinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With NTRK Fusions (A Pediatric MATCH Treatment Trial) Recruiting NCT03213704 Phase 2 Larotrectinib
23 PI3K/mTOR Inhibitor LY3023414 in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With TSC or PI3K/MTOR Mutations (A Pediatric MATCH Treatment Trial) Recruiting NCT03213678 Phase 2 PI3K/mTOR Inhibitor LY3023414
24 Erdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations (A Pediatric MATCH Treatment Trial) Recruiting NCT03210714 Phase 2 Erdafitinib
25 Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial) Recruiting NCT03155620 Phase 2 Ensartinib;Erdafitinib;Larotrectinib;Olaparib;Palbociclib;PI3K/mTOR Inhibitor LY3023414;Selumetinib Sulfate;Tazemetostat;Vemurafenib
26 Dasatinib, Ifosfamide, Carboplatin, and Etoposide in Treating Young Patients With Metastatic or Recurrent Malignant Solid Tumors Active, not recruiting NCT00788125 Phase 1, Phase 2 carboplatin;dasatinib;etoposide phosphate;ifosfamide
27 A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Immunogenicity, and Preliminary Efficacy of Atezolizumab (Anti-Programmed Death-Ligand 1 [PD-L1] Antibody) in Pediatric and Young Adult Participants With Solid Tumors Active, not recruiting NCT02541604 Phase 1, Phase 2 Atezolizumab
28 Risk-Adapted Therapy for Young Children With Embryonal Brain Tumors, Choroid Plexus Carcinoma, High Grade Glioma or Ependymoma Active, not recruiting NCT00602667 Phase 2 Induction Chemotherapy;Low-Risk Therapy;High-Risk Therapy;Intermediate-Risk Therapy
29 Crizotinib in Treating Young Patients With Relapsed or Refractory Solid Tumors or Anaplastic Large Cell Lymphoma Active, not recruiting NCT00939770 Phase 1, Phase 2 crizotinib
30 Iodine I 131 Monoclonal Antibody 3F8 in Treating Patients With Central Nervous System Cancer or Leptomeningeal Cancer Active, not recruiting NCT00445965 Phase 2
31 Tazemetostat in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With EZH2, SMARCB1, or SMARCA4 Gene Mutations (A Pediatric MATCH Treatment Trial) Suspended NCT03213665 Phase 2 Tazemetostat
32 Melphalan, Carboplatin, Mannitol, and Sodium Thiosulfate in Treating Patients With Recurrent or Progressive CNS Embryonal or Germ Cell Tumors Suspended NCT00983398 Phase 1, Phase 2 Carboplatin;Mannitol;Melphalan;Sodium Thiosulfate
33 Antineoplaston Therapy in Treating Children With Rhabdoid Tumor of the Central Nervous System Terminated NCT00003469 Phase 2 Antineoplaston therapy (Atengenal + Astugenal)
34 Peripheral Stem Cell Transplantation Plus Chemotherapy in Treating Patients With Malignant Solid Tumors Unknown status NCT00007813 Phase 1 carboplatin;cyclophosphamide;etoposide
35 Study of Safety and Efficacy in Patients With Malignant Rhabdoid Tumors (MRT) and Neuroblastoma Completed NCT01747876 Phase 1 LEE011
36 Vorinostat and Temozolomide in Treating Young Patients With Relapsed or Refractory Primary Brain Tumors or Spinal Cord Tumors Completed NCT01076530 Phase 1 vorinostat;temozolomide
37 ABT-888 and Temozolomide in Treating Young Patients With Recurrent or Refractory CNS Tumors Completed NCT00946335 Phase 1 veliparib;temozolomide
38 AZD2171 in Treating Young Patients With Recurrent, Progressive, or Refractory Primary CNS Tumors Completed NCT00326664 Phase 1 Cediranib Maleate
39 Lenalidomide in Treating Young Patients With Recurrent, Progressive, or Refractory CNS Tumors Completed NCT00100880 Phase 1 lenalidomide
40 Vorinostat With or Without Isotretinoin in Treating Young Patients With Recurrent or Refractory Solid Tumors, Lymphoma, or Leukemia Completed NCT00217412 Phase 1 vorinostat;isotretinoin
41 Thalidomide and Docetaxel in Treating Patients With Advanced Cancer Completed NCT00049296 Phase 1 docetaxel;thalidomide
42 Talabostat Combined With Temozolomide or Carboplatin in Treating Young Patients With Relapsed or Refractory Brain Tumors or Other Solid Tumors Completed NCT00303940 Phase 1 carboplatin;talabostat mesylate;temozolomide
43 Temozolomide, Vincristine, and Irinotecan in Treating Young Patients With Refractory Solid Tumors Completed NCT00138216 Phase 1 irinotecan hydrochloride;temozolomide;vincristine sulfate
44 Chemotherapy Plus Peripheral Stem Cell Transplantation in Treating Infants With Malignant Brain or Spinal Cord Tumors Completed NCT00003141 Phase 1 carboplatin;cisplatin;cyclophosphamide;etoposide;thiotepa;vincristine sulfate
45 Chemotherapy and Stem Cell Transplantation in Treating Children With Central Nervous System Cancer Completed NCT00053118 Phase 1 carboplatin;etoposide
46 SCH 66336 in Treating Children With Recurrent or Progressive Brain Tumors Completed NCT00015899 Phase 1 lonafarnib
47 p28 in Treating Younger Patients With Recurrent or Progressive Central Nervous System Tumors Completed NCT01975116 Phase 1 azurin-derived cell-penetrating peptide p28
48 Modified Measles Virus (MV-NIS) for Children and Young Adults With Recurrent Medulloblastoma or Recurrent ATRT Recruiting NCT02962167 Phase 1
49 Methotrexate Infusion Into Fourth Ventricle in Children With Recurrent Malignant Fourth Ventricular Brain Tumors Recruiting NCT02458339 Phase 1 Methotrexate
50 SJDAWN: St. Jude Children's Research Hospital Phase 1 Study Evaluating Molecularly-Driven Doublet Therapies for Children and Young Adults With Recurrent Brain Tumors Recruiting NCT03434262 Phase 1 Gemcitabine;ribociclib;sonidegib;trametinib

Search NIH Clinical Center for Atypical Teratoid Rhabdoid Tumor

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Genetic Tests for Atypical Teratoid Rhabdoid Tumor

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Anatomical Context for Atypical Teratoid Rhabdoid Tumor

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MalaCards organs/tissues related to Atypical Teratoid Rhabdoid Tumor:

41
Brain, Spinal Cord, Kidney, Pineal, Cerebellum, Skeletal Muscle, Myeloid
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Publications for Atypical Teratoid Rhabdoid Tumor

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Articles related to Atypical Teratoid Rhabdoid Tumor:

(show top 50) (show all 272)
# Title Authors Year
1
Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1. ( 29779243 )
2018
2
Primary diffuse leptomeningeal atypical teratoid/rhabdoid tumor diagnosed by cerebrospinal fluid cytology: Case report with molecular genetic analysis. ( 29339179 )
2018
3
Atypical teratoid rhabdoid tumor in a 65-year-old man presenting with disseminated leptomeningeal disease: A case report and review of the literature. ( 29785266 )
2018
4
TLE1 Expression in Malignant Rhabdoid Tumor and Atypical Teratoid/Rhabdoid Tumor. ( 29490565 )
2018
5
Malignant progression of a peripheral nerve sheath tumor in the setting of rhabdoid tumor predisposition syndrome. ( 29512865 )
2018
6
Dumbbell-shaped atypical teratoid rhabdoid tumor in the cervical spine mimicking schwannoma. ( 29018929 )
2018
7
Atypical teratoid/rhabdoid tumor of the sellar region in adult women: Is it a sex-related disease? ( 29248378 )
2018
8
Atypical Teratoid Rhabdoid Tumor of the Cauda Equina in a Child: Report of a Very Unusual Case. ( 29346182 )
2018
9
Atypical Teratoid/Rhabdoid Tumor of the Spinal Cord in a Child: Case Report and Comprehensive Review of the Literature. ( 29788028 )
2018
10
Atypical teratoid/rhabdoid tumor after in-vitro fertilization: illustrative case report and systematic literature review. ( 29452330 )
2018
11
Atypical teratoid/rhabdoid tumor with retained INI1 (SMARCB1) expression and loss of BRG1 (SMARCA4). ( 29271065 )
2017
12
Atypical Teratoid/ Rhabdoid Tumor of Brain: a Clinicopathologic Study of Eleven Patients and Review of Literature ( 28545192 )
2017
13
Targeting Polo-like kinase 1 in SMARCB1 deleted atypical teratoid rhabdoid tumor. ( 29228610 )
2017
14
Repositioning disulfiram as a radiosensitizer against atypical teratoid/rhabdoid tumor. ( 28340172 )
2017
15
Ewing Sarcoma and Atypical Teratoid Rhabdoid Tumor. ( 28382842 )
2017
16
OTX2 Defines a Subgroup of Atypical Teratoid Rhabdoid Tumors With Close Relationship to Choroid Plexus Tumors. ( 28025236 )
2017
17
Correction: Frequent Overexpression of HMGA2 in Human Atypical Teratoid/Rhabdoid Tumor and Its Correlation with let-7a3/let-7b miRNA. ( 28620002 )
2017
18
Atypical Teratoid Rhabdoid Tumor: Two Case Reports and an Analysis of Adult Cases with Implications for Pathophysiology and Treatment. ( 28676785 )
2017
19
Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor. ( 28722703 )
2017
20
Atypical teratoid/rhabdoid tumor of lumbar spine in a toddler child. ( 28503314 )
2017
21
Sustained Complete Response to Metronomic Chemotherapy in a Child with Refractory Atypical Teratoid Rhabdoid Tumor: A Case Report. ( 29163174 )
2017
22
Synchronous Central Nervous System Atypical Teratoid/ Rhabdoid Tumor and Malignant Rhabdoid Tumor of the Kidney: Case report of a Long-Term Survivor and Review of the Literature. ( 29223518 )
2017
23
Non-Malignant Cerebrospinal Fluid Ascites in a Patient with Atypical Teratoid Rhabdoid Tumor. ( 28365696 )
2017
24
Loss of CDKN1C in a Recurrent Atypical Teratoid/Rhabdoid Tumor. ( 28731921 )
2017
25
Molecular Transition of an Adult Low-Grade Brain Tumor to an Atypical Teratoid/Rhabdoid Tumor Over a Time-Course of 14 Years. ( 28789476 )
2017
26
Multifocal atypical teratoid rhabdoid tumor of the central nervous system in an adult patient. ( 29150125 )
2017
27
Atypical teratoid rhabdoid tumor of the central nervous system: Case series from a regional Tertiary Care Cancer Centre in South India. ( 29237968 )
2017
28
Sellar Atypical Teratoid/Rhabdoid Tumor (AT/RT): A Clinicopathologically and Genetically Distinct Variant of AT/RT. ( 28338502 )
2017
29
Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22. ( 27734605 )
2017
30
Suprasellar atypical teratoid/rhabdoid tumor. ( 28454722 )
2017
31
LIN28A, a sensitive immunohistochemical marker for Embryonal Tumor with Multilayered Rosettes (ETMR), is also positive in a subset of Atypical Teratoid/Rhabdoid Tumor (AT/RT). ( 28744687 )
2017
32
Multimodal treatments combined with gamma knife surgery for primary atypical teratoid/rhabdoid tumor of the central nervous system: a single-institute experience of 18 patients. ( 29218405 )
2017
33
Development of an Atypical Teratoid Rhabdoid Tumor in a Meningioma. ( 28459167 )
2017
34
A Diagnostic Pitfall: Atypical Teratoid Rhabdoid Tumor Versus Dedifferentiated/Poorly Differentiated Chordoma: Analysis of a Mono-institutional Series. ( 28777153 )
2017
35
Primary atypical teratoid rhabdoid tumor in the adult spine. ( 28458948 )
2017
36
Therapeutic Targeting of PTK7 is Cytotoxic in Atypical Teratoid Rhabdoid Tumors. ( 28442586 )
2017
37
Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome. ( 28620006 )
2017
38
Pituitary atypical teratoid rhabdoid tumor in a patient with prolactinoma: A unique description. ( 29110337 )
2017
39
Suboccipital Extraspinal Extracranial Atypical Teratoid Rhabdoid Tumor. ( 28694650 )
2017
40
Cytologic diagnosis of atypical teratoid rhabdoid tumor based on touch imprint study: Report of a case with review of literature. ( 28616426 )
2017
41
Atypical teratoid rhabdoid tumor arising in a pleomorphic xanthoastrocytoma: a rare entity. ( 28502320 )
2017
42
Rhabdoid Tumor Predisposition Syndrome and Pleuropulmonary Blastoma Syndrome. ( 27617153 )
2016
43
LIN28B is highly expressed in atypical teratoid/rhabdoid tumor (AT/RT) and suppressed through the restoration of SMARCB1. ( 27095948 )
2016
44
Atypical Teratoid/Rhabdoid Tumor (AT/RT) Arising From Ependymoma: A Type of AT/RT Secondarily Developing From Other Primary Central Nervous System Tumors. ( 26769252 )
2016
45
Multifocal atypical teratoid/rhabdoid tumor: a rare entity. ( 27757569 )
2016
46
A case of primary spinal atypical teratoid/rhabdoid tumor in a 5-year-old child. ( 27606020 )
2016
47
Atypical Teratoid Rhabdoid Tumor Diagnosis after Partial Resection of Dysembryoplastic Neuroepithelial Tumor: Case Report and Review of the Literature. ( 26978682 )
2016
48
Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor. ( 26646792 )
2016
49
Atypical teratoid/rhabdoid tumor in the sella turcica of an elderly female with a distinct vascular pattern and genetic alterations. ( 27595781 )
2016
50
Atypical Teratoid/Rhabdoid Tumor of the Pineal Region in a Young Adult Male Patient: Case Report and Review of the Literature. ( 27144539 )
2016
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Variations for Atypical Teratoid Rhabdoid Tumor

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ClinVar genetic disease variations for Atypical Teratoid Rhabdoid Tumor:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TP53 NM_000546.5(TP53): c.733G> A (p.Gly245Ser) single nucleotide variant Pathogenic rs28934575 GRCh37 Chromosome 17, 7577548: 7577548
2 TP53 NM_000546.5(TP53): c.733G> A (p.Gly245Ser) single nucleotide variant Pathogenic rs28934575 GRCh38 Chromosome 17, 7674230: 7674230
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Expression for Atypical Teratoid Rhabdoid Tumor

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Search GEO for disease gene expression data for Atypical Teratoid Rhabdoid Tumor.
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Pathways for Atypical Teratoid Rhabdoid Tumor

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

(show all 22)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.58 AURKA CCND1 CTNNB1 DES GFAP IGF1R
2
PI3K-Akt signaling pathway 37
Show member pathways
 12.83 CCND1 CTNNB1 IGF1R IGF2 SPP1 TP53
3
Pathways in cancer 37
12.7 CCND1 CTNNB1 IGF1R IGF2 TP53
4
MicroRNAs in cancer 37
12.38 CCND1 HMGA2 TP53 VIM
5
Gastric cancer 37
Show member pathways
 12.37 CCND1 CTNNB1 IGF1R IGF2 SMARCA4 SMARCB1
6
DNA Damage 4
12.33 AURKA CCND1 SMARCA4 TP53 VIM
7
Proteoglycans in cancer 37
12.02 CCND1 CTNNB1 IGF1R IGF2 TP53
8
Development IGF-1 receptor signaling 22
Show member pathways
 11.88 CCND1 IGF1R IGF2 TP53
9
Integrated Breast Cancer Pathway 1
11.84 AURKA CCND1 CTNNB1 SMARCA4 TP53
10
Cell cycle Cell cycle (generic schema) 22
Show member pathways
 11.82 CCND1 CTNNB1 SMARCA4 TP53 VIM
11
Spinal Cord Injury 1
11.81 CCND1 GFAP TP53 VIM
12
Interleukin-4 and 13 signaling 66
11.76 CCND1 MUC1 TP53 VIM
13
BRCA1 Pathway 64
Show member pathways
 11.69 SMARCA4 SMARCB1 TP53
14
Regulation of Wnt-mediated beta catenin signaling and target gene transcription 1
11.65 CCND1 CTNNB1 SMARCA4
15
Striated Muscle Contraction 1 66
11.6 ACTC1 DES VIM
16
Transcription Ligand-dependent activation of the ESR1/SP pathway 22
Show member pathways
 11.58 CCND1 SMARCA4 SMARCB1
17
Endochondral Ossification 1
11.54 IGF1R IGF2 SPP1
18
Glioblastoma Multiforme 64
11.4 CCND1 CTNNB1 IGF1R IGF2 TP53
19
Cytoskeleton remodeling_RalA regulation pathway 22
11.38 ACTC1 AURKA IGF1R IGF2
20
Aurora B signaling 1
Show member pathways
 11.34 AURKA DES VIM
21
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 65
10.92 GFAP S100B SMARCA4 SYP VIM
22
LncRNA-mediated mechanisms of therapeutic resistance 1
10.68 HOTAIR TP53
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GO Terms for Atypical Teratoid Rhabdoid Tumor

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

# Name GO ID Score Top Affiliating Genes
1 SWI/SNF complex GO:0016514 9.32 SMARCA4 SMARCB1
2 nBAF complex GO:0071565 9.26 SMARCA4 SMARCB1
3 npBAF complex GO:0071564 9.16 SMARCA4 SMARCB1
4 fascia adherens GO:0005916 8.96 CTNNB1 DES
5 nuclear chromatin GO:0000790 8.92 MUC1 SMARCA4 SMARCB1 TP53

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.95 CCND1 CTNNB1 IGF1R IGF2 S100B
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.93 CCND1 CTNNB1 HMGA2 IGF2 SMARCA4 TP53
3 positive regulation of gene expression GO:0010628 9.83 ACTC1 CTNNB1 HMGA2 TP53 VIM
4 response to organic substance GO:0010033 9.73 CCND1 IGF2 SPP1
5 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.65 AURKA MUC1 TP53
6 negative regulation of apoptotic process GO:0043066 9.63 ACTC1 AURKA HMGA2 IGF1R IGF2 TP53
7 mitotic G1 DNA damage checkpoint GO:0031571 9.54 CCND1 TP53
8 muscle filament sliding GO:0030049 9.54 ACTC1 DES VIM
9 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.52 SMARCA4 SMARCB1
10 RNA polymerase I transcriptional preinitiation complex assembly GO:0001188 9.51 SMARCA4 SMARCB1
11 Bergmann glial cell differentiation GO:0060020 9.49 GFAP VIM
12 positive regulation of histone H4 acetylation GO:0090240 9.4 MUC1 SMARCB1
13 intermediate filament-based process GO:0045103 9.32 GFAP VIM
14 positive regulation of glucose mediated signaling pathway GO:1902661 9.26 SMARCA4 SMARCB1
15 positive regulation of DNA binding transcription factor activity GO:0051091 9.26 CTNNB1 HMGA2 SMARCA4 SMARCB1
16 intermediate filament organization GO:0045109 8.8 DES GFAP VIM

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.8 DES GFAP IGF1R S100B SYP TP53
2 Tat protein binding GO:0030957 9.37 SMARCA4 SMARCB1
3 transcription factor binding GO:0008134 9.35 CCND1 CTNNB1 HMGA2 SMARCA4 TP53
4 nucleosomal DNA binding GO:0031492 9.33 HMGA2 SMARCA4 SMARCB1
5 RNA polymerase I CORE element sequence-specific DNA binding GO:0001164 9.32 SMARCA4 SMARCB1
6 p53 binding GO:0002039 8.92 MUC1 SMARCA4 SMARCB1 TP53
Sources

Sources for Atypical Teratoid Rhabdoid Tumor

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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