MCID: EPN002
MIFTS: 56

Ependymoma

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

Aliases & Classifications for Ependymoma

MalaCards integrated aliases for Ependymoma:

Name: Ependymoma 53 59 29 55 6 73
Tanycytic Ependymoma 53 73
Papillary Ependymoma 53 73
Cellular Ependymoma 53 73
Who Grade Ii Ependymal Neoplasm 53
Epithelial Ependymoma 53
Clear Cell Ependymoma 53
Ependymoma, Familial 53

Characteristics:

Orphanet epidemiological data:

59
ependymoma
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA251636
UMLS via Orphanet 74 C0014474
ICD10 via Orphanet 34 D43.2

Summaries for Ependymoma

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 251636Disease definitionEpendymoma is the most frequent intramedullary tumor in adults (but accounts for only 10-12% of pediatric central nervous system tumors), and can be benign or anaplastic. Ependymoma arise from the ependymal cells of the cerebral ventricles, corticle rests and central canal of the spinal cord, and manifest with variable symptoms such headache, vomiting, seizures, focal neurological signs and loss of vision and can cause obstructive hydrocephalus in some cases.Visit the Orphanet disease page for more resources.

MalaCards based summary : Ependymoma, also known as tanycytic ependymoma, is related to myxopapillary ependymoma and anaplastic ependymoma. An important gene associated with Ependymoma is MEN1 (Menin 1), and among its related pathways/superpathways are DNA Damage and Neuroscience. The drugs Cisplatin and Vincristine have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and t cells, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 76 Ependymoma is a tumor that arises from the ependyma, a tissue of the central nervous system. Usually, in... more...

Related Diseases for Ependymoma

Diseases in the Ependymoma family:

Benign Ependymoma Malignant Ependymoma
Malignant Adult Ependymoma

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

(show top 50) (show all 325)
# Related Disease Score Top Affiliating Genes
1 myxopapillary ependymoma 34.0 GFAP MUC1 S100B VIM
2 anaplastic ependymoma 33.8 GFAP MUC1 NF2 RELA S100B SYP
3 malignant ependymoma 33.7 GFAP NF2 RELA
4 cellular ependymoma 33.6 GFAP RELA SYP
5 benign ependymoma 33.5 ENO2 GFAP NF2 SYP
6 brain ependymoma 33.4 EGFR MKI67
7 tanycytic ependymoma 33.2 GFAP MEN1 NES NF2 SYP
8 clear cell ependymoma 33.2 ENO2 GFAP MUC1 SYP VIM
9 papillary ependymoma 32.6 ENO2 GFAP NES S100B SYP TTR
10 subependymoma 31.9 ENO2 GFAP NES SYP
11 subependymal glioma 31.6 ENO2 GFAP SYP
12 medulloblastoma 30.8 EGFR ENO2 GFAP HOTAIR MGMT NES
13 angiocentric glioma 30.2 GFAP S100B SYP VIM
14 hemangioblastoma 30.1 ENO2 GFAP MUC1 S100B SYP
15 secretory meningioma 30.1 MUC1 VIM
16 ependymoblastoma 30.0 GFAP NES VIM
17 chordoma 30.0 EGFR GFAP MUC1 S100B VIM
18 teratoma 29.9 ENO2 GFAP NES SYP
19 papilloma of choroid plexus 29.9 GFAP MUC1 S100B SYP TTR
20 neurofibroma 29.8 MUC1 NF2 S100B SYP
21 hydrocephalus 29.7 ENO2 GFAP NES SYP TTR
22 embryonal sarcoma 29.7 MKI67 S100B VIM
23 atypical teratoid rhabdoid tumor 29.7 GFAP HOTAIR SYP
24 cystic teratoma 29.7 ENO2 GFAP SYP
25 medulloepithelioma 29.7 GFAP NES SYP VIM
26 chordoid meningioma 29.7 GFAP MUC1 S100B SYP VIM
27 ganglioneuroma 29.7 ENO2 GFAP SYP
28 neuroendocrine tumor 29.7 ENO2 MEN1 SYP
29 renal cell carcinoma, nonpapillary 29.6 EGFR HOTAIR MUC1 VIM
30 oligodendroglioma 29.6 EGFR ENO2 GFAP MGMT S100B SYP
31 neuroma 29.6 ENO2 GFAP NF2 S100B
32 carcinoid syndrome 29.6 ENO2 MEN1 SYP
33 ganglioglioma 29.6 ENO2 GFAP NES S100B SYP
34 central neurocytoma 29.5 ENO2 GFAP NES SYP
35 astroblastoma 29.3 ENO2 GFAP NES SYP VIM
36 gliosarcoma 29.2 EGFR ENO2 GFAP MGMT NES RB1
37 meningioma, familial 29.1 ENO2 GFAP MEN1 MKI67 NF2 SYP
38 pediatric ependymoma 12.5
39 adult brain ependymoma 12.2
40 spinal cord ependymoma 12.2
41 pediatric supratentorial ependymoma 12.2
42 pediatric infratentorial ependymoma 12.1
43 low grade ependymoma 12.1
44 mixed astrocytoma-ependymoma 12.0
45 brain stem ependymoma 12.0
46 malignant adult ependymoma 12.0
47 adult spinal cord ependymoma 12.0
48 mixed astrocytoma-ependymoma-oligodendroglioma 12.0
49 parietal lobe ependymoma 11.9
50 glioma 11.4

Graphical network of the top 20 diseases related to Ependymoma:



Diseases related to Ependymoma

Symptoms & Phenotypes for Ependymoma

GenomeRNAi Phenotypes related to Ependymoma according to GeneCards Suite gene sharing:

26 (show all 28)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.9 RB1 TP73
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.9 MEN1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.9 EGFR
4 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.9 EGFR RB1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.9 MEN1 TIMP3 TP73
6 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.9 MEN1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.9 RB1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.9 TIMP3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.9 TIMP3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.9 RB1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.9 MEN1 RB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.9 EGFR
13 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.9 TP73
14 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.9 TP73
15 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.9 EGFR
16 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.9 RB1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.9 EGFR
18 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.9 TIMP3
19 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.9 EGFR MEN1 RB1 TIMP3 TP73
20 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.9 MEN1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.9 MEN1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.9 RB1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.9 RB1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.9 TIMP3
25 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.9 TP73
26 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.9 MEN1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.9 EGFR TIMP3
28 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.9 TP73

MGI Mouse Phenotypes related to Ependymoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.15 EGFR GFAP MEN1 MGMT NF2 RB1
2 cardiovascular system MP:0005385 10.09 EGFR GFAP MEN1 RB1 RELA TIMP3
3 digestive/alimentary MP:0005381 9.95 EGFR GFAP MEN1 RB1 RELA TP73
4 muscle MP:0005369 9.87 EGFR GFAP MEN1 RB1 RELA TIMP3
5 nervous system MP:0003631 9.85 EGFR ENO2 GFAP MEN1 NF2 RB1
6 neoplasm MP:0002006 9.73 EGFR MEN1 MGMT NF2 RB1 TP73
7 respiratory system MP:0005388 9.61 EGFR ENO2 MGMT NF2 RB1 RELA
8 vision/eye MP:0005391 9.28 EGFR GFAP NF2 RB1 RELA TIMP3

Drugs & Therapeutics for Ependymoma

Drugs for Ependymoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 312)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cisplatin Approved Phase 3,Phase 2,Phase 1,Not Applicable 15663-27-1 2767 441203 84093
2
Vincristine Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 57-22-7, 2068-78-2 5978
3
Carboplatin Approved Phase 3,Phase 2,Phase 1,Not Applicable 41575-94-4 10339178 38904 498142
4
leucovorin Approved Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 58-05-9 6006 143
5
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 6055-19-2, 50-18-0 2907
6
Thiotepa Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 52-24-4 5453
7
Methotrexate Approved Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 59-05-2, 1959-05-2 126941
8
Lenograstim Approved, Investigational Phase 3,Phase 2,Phase 1 135968-09-1
9
Temozolomide Approved, Investigational Phase 3,Phase 2,Phase 1,Early Phase 1 85622-93-1 5394
10
Etoposide Approved Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 33419-42-0 36462
11
Dacarbazine Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1 4342-03-4 5351166
12
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
13
Donepezil Approved Phase 3,Phase 2,Early Phase 1 120014-06-4 3152
14
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 1177-87-3
15
Ondansetron Approved Phase 3 99614-02-5 4595
16
Granisetron Approved, Investigational Phase 3 109889-09-0 3510
17
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 50-02-2 5743
18
Valproic Acid Approved, Investigational Phase 2, Phase 3,Phase 1 99-66-1 3121
19
Histamine Approved, Investigational Phase 3,Phase 2 51-45-6, 75614-87-8 774
20
Cyproheptadine Approved Phase 3,Phase 2 129-03-3 2913
21
Dopamine Approved Phase 3,Phase 2,Early Phase 1,Not Applicable 51-61-6, 62-31-7 681
22
Methylphenidate Approved, Investigational Phase 3 113-45-1 4158
23
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 59-30-3 6037
24 Trofosfamide Investigational Phase 2, Phase 3 22089-22-1
25 Pancreatic Polypeptide Investigational Phase 3,Phase 1 59763-91-6
26 Etoposide phosphate Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
27 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
28 Immunologic Factors Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
29 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
30 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
31 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
32 Vitamin B Complex Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
33 Alkylating Agents Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
34 Dermatologic Agents Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
35 Folic Acid Antagonists Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
36 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
37 Antimitotic Agents Phase 3,Phase 2,Phase 1,Not Applicable
38 Antimetabolites Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
39 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
40 Folate Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
41 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
42 Vitamin B9 Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
43 Central Nervous System Depressants Phase 3,Phase 2,Phase 1
44 Liver Extracts Phase 3,Phase 2,Phase 1
45 Keratolytic Agents Phase 3,Phase 2,Phase 1
46 Podophyllotoxin Phase 3,Phase 2,Phase 1 518-28-5
47 Cola Phase 3,Phase 1
48 Adjuvants, Anesthesia Phase 3
49 Anesthetics, Intravenous Phase 3
50 Analgesics, Opioid Phase 3

Interventional clinical trials:

(show top 50) (show all 259)
# Name Status NCT ID Phase Drugs
1 SCRT Versus Conventional RT in Children and Young Adults With Low Grade and Benign Brain Tumors Unknown status NCT00517959 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 Therapy Optimization Trial for the Treatment of Relapsed or Refractory Brain Tumors in Children Completed NCT00749723 Phase 2, Phase 3 carboplatin;etoposide;temozolomide;thiotepa, carboplatin, etoposide;temozolomide, thiotepa;intraventricular etoposide;trofosfamide, etoposide
4 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
5 Donepezil in Treating Patients Who Have Undergone Radiation Therapy for Brain Tumors Completed NCT00369785 Phase 3 donepezil hydrochloride;Placebo
6 Acupressure in Controlling Nausea in Young Patients Receiving Highly Emetogenic Chemotherapy Completed NCT01346267 Phase 3
7 An International Clinical Program for the Diagnosis and Treatment of Children With Ependymoma Recruiting NCT02265770 Phase 2, Phase 3 16 weeks of VEC + CDDP;VEC + HD-MTX;Chemotherapy + Valproate;VEC;Chemotherapy
8 Maintenance Chemotherapy or Observation Following Induction Chemotherapy and Radiation Therapy in Treating Patients With Newly Diagnosed Ependymoma Recruiting NCT01096368 Phase 3 Carboplatin;Cisplatin;Cyclophosphamide;Etoposide;Vincristine Sulfate Liposome
9 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
10 Methylphenidate to Improve Quality of Life in Patients Undergoing Radiation Therapy for Brain Tumors Terminated NCT00031798 Phase 3 methylphenidate hydrochloride
11 High-Dose Methotrexate in Treating Young Patients With Residual Ependymoma Unknown status NCT00287924 Phase 2 methotrexate
12 Observation or Radiation Therapy and/or Chemotherapy and Second Surgery in Treating Children Who Have Undergone Surgery for Ependymoma Unknown status NCT00027846 Phase 2 carboplatin;cyclophosphamide;etoposide;vincristine sulfate;Mesna
13 Etoposide in Treating Young Patients With Relapsed Ependymoma Unknown status NCT00278252 Phase 2 etoposide
14 Phase I/II Trial of Safety and Anti-tumor Efficacy of AXL1717(Picropodophyllin) in the Treatment of Recurrent Malignant Astrocytomas Unknown status NCT01721577 Phase 1, Phase 2 AXL1717
15 The Use of 5-aminolevulinic Acid (ALA) as an Intraoperative Tumor Marker for Resection of Pediatric Central Nervous System (CNS) Tumors Unknown status NCT02050243 Phase 1, Phase 2 5ALA
16 Proton Beam Radiation Therapy in Treating Patients With Low Grade Gliomas Unknown status NCT01024907 Phase 1, Phase 2
17 A Study of Aminolevulinic Acid (ALA) to Enhance Visualization and Resection of Malignant Glial Tumors of the Brain Unknown status NCT01403311 Phase 2 5-Aminolevuline Acid
18 Combination Chemotherapy With or Without Radiation Therapy in Treating Children With Brain Tumors Unknown status NCT00281905 Phase 2 carboplatin;cisplatin;cyclophosphamide;methotrexate;vincristine sulfate
19 Carmustine Followed By Surgery in Treating Patients With Recurrent Supratentorial Malignant Glioma or Metastatic Brain Neoplasm Unknown status NCT00009854 Phase 1, Phase 2 carmustine in ethanol
20 Everolimus for Children With Recurrent or Progressive Ependymoma Completed NCT02155920 Phase 2 Everolimus
21 Combination Chemotherapy Followed by Radiation Therapy in Treating Children With Localized Ependymoma Completed NCT00004224 Phase 2 cyclophosphamide;etoposide;vincristine sulfate
22 Bevacizumab and Lapatinib in Children With Recurrent or Refractory Ependymoma Completed NCT00883688 Phase 2 Bevacizumab;Lapatinib
23 Dose-Dense Temozolomide + Lapatinib for Recurrent Ependymoma Completed NCT00826241 Phase 2 Temozolomide;Lapatinib
24 Etoposide Plus Cisplatin in Treating Patients With Recurrent Ependymomas Completed NCT00002876 Phase 2 cisplatin;etoposide
25 Bevacizumab and Irinotecan in Treating Young Patients With Recurrent, Progressive, or Refractory Glioma, Medulloblastoma, Ependymoma, or Low Grade Glioma Completed NCT00381797 Phase 2 Irinotecan Hydrochloride
26 Sunitinib Malate in Treating Younger Patients With Recurrent, Refractory, or Progressive Malignant Glioma or Ependymoma Completed NCT01462695 Phase 2 Sunitinib Malate
27 Combination Chemotherapy Followed by Radiation Therapy in Treating Patients With Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, or Ependymoma Completed NCT00006258 Phase 2 cisplatin;cyclophosphamide;etoposide;methotrexate;vincristine sulfate
28 Combination Chemotherapy Plus Radiation Therapy in Treating Adult Patients With Brain Cancer Completed NCT00003309 Phase 2 cisplatin;cyclophosphamide;etoposide;vincristine sulfate
29 Lapatinib in Treating Young Patients With Recurrent or Refractory Central Nervous System Tumors Completed NCT00095940 Phase 1, Phase 2 lapatinib ditosylate
30 Thiotepa Followed by Peripheral Stem Cell or Bone Marrow Transplant in Treating Patients With Malignant Glioma Completed NCT00008008 Phase 2 cyclophosphamide;thiotepa
31 A Study of Pemetrexed in Children With Recurrent Cancer Completed NCT00520936 Phase 2 pemetrexed
32 A Study for Image-Guided Radiation Therapy in Pediatric Brain Tumors and Side Effects Completed NCT00187226 Phase 2
33 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
34 Rebeccamycin Analogue in Treating Children With Solid Tumors or Non-Hodgkin's Lymphoma Completed NCT00006102 Phase 2 becatecarin
35 Bevacizumab for Symptomatic Vestibular Schwannoma in Neurofibromatosis Type 2 (NF2) Completed NCT01207687 Phase 2
36 Phenylbutyrate to Treat Children With Progressive or Recurrent Brain Tumors Completed NCT00006450 Phase 2 Phenylbutyrate
37 A Phase I/II Study of the Photon Radiosurgery System Completed NCT00179907 Phase 1, Phase 2
38 Irinotecan in Treating Children With Refractory Solid Tumors Completed NCT00004078 Phase 2 irinotecan hydrochloride
39 Bevacizumab in Reducing CNS Side Effects in Patients Who Have Undergone Radiation Therapy to the Brain for Primary Brain Tumor, Meningioma, or Head and Neck Cancer Completed NCT00492089 Phase 2 bevacizumab;placebo
40 Oxaliplatin in Treating Children With Recurrent or Refractory Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, or Atypical Teratoid Rhabdoid Tumor Completed NCT00047177 Phase 2 Oxaliplatin
41 Oxaliplatin in Treating Young Patients With Recurrent Solid Tumors That Have Not Responded to Previous Treatment Completed NCT00091182 Phase 2 oxaliplatin
42 Bevacizumab and Irinotecan for Patients With Primary Brain Tumors and Progression After Standard Therapy Completed NCT00463203 Phase 2 Bevacizumab;Irinotecan
43 Poly-ICLC in Treating Patients With Recurrent or Progressive Anaplastic Glioma Completed NCT00058123 Phase 2 poly ICLC
44 Radiolabeled Monoclonal Antibody Therapy in Treating Patients With Primary or Metastatic Brain Cancers Completed NCT00002752 Phase 1, Phase 2
45 Chemotherapy and Vaccine Therapy Followed by Bone Marrow or Peripheral Stem Cell Transplantation and Interleukin-2 in Treating Patients With Recurrent or Refractory Brain Cancer Completed NCT00014573 Phase 2 carmustine;cisplatin;cyclophosphamide;paclitaxel
46 Combination Chemotherapy and Tamoxifen in Treating Patients With Solid Tumors Completed NCT00002608 Phase 2 cisplatin;doxorubicin hydrochloride;tamoxifen citrate
47 Armodafinil in Treating Fatigue Caused By Radiation Therapy in Patients With Primary Brain Tumors Completed NCT01032200 Phase 2 Armodafinil
48 Tamoxifen, Carboplatin, and Topotecan in Treating Patients With CNS Metastases or Recurrent Brain or Spinal Cord Tumors Completed NCT00541138 Phase 2 carboplatin;tamoxifen citrate;topotecan hydrochloride
49 Temozolomide in Treating Patients With Recurrent Glioblastoma Multiforme or Other Malignant Glioma Completed NCT00498927 Phase 2 temozolomide
50 Magnetic Resonance Imaging and Magnetic Resonance Spectroscopic Imaging in Evaluating Patients Who Are Undergoing Treatment for Gliomas Completed NCT00274755 Phase 2 chemotherapy

Search NIH Clinical Center for Ependymoma

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Ependymoma

Genetic tests related to Ependymoma:

# Genetic test Affiliating Genes
1 Ependymoma 29

Anatomical Context for Ependymoma

MalaCards organs/tissues related to Ependymoma:

41
Brain, Spinal Cord, T Cells, Bone, Pituitary, Lung, Endothelial

Publications for Ependymoma

Articles related to Ependymoma:

(show top 50) (show all 1164)
# Title Authors Year
1
Outcome predictors in the management of intramedullary classic ependymoma: An integrative survival analysis. ( 29879023 )
2018
2
Keyhole Contralateral Interhemispheric Endoscopic-Assisted Resection of an Ependymoma of the Third Ventricle. ( 29351681 )
2018
3
Unique combination of myxopapillary ependymoma and conus lipoma with subcutaneous extension in an 11-month-old child. ( 29380114 )
2018
4
Treatment challenges and outcomes for pediatric intracranial ependymoma at a single institution in Iran. ( 29565756 )
2018
5
NF2 and ATRX gene copy number losses on a case of ovarian ependymoma. ( 29944970 )
2018
6
Adult Supratentorial Extraventricular Anaplastic Ependymoma: Therapeutic Approach and Clinical Review. ( 29492136 )
2018
7
Pediatric Supratentorial Ependymoma: Surgical, Clinical, and Molecular Analysis. ( 29917116 )
2018
8
Outcomes After Reirradiation for Recurrent Pediatric Intracranial Ependymoma. ( 29229328 )
2018
9
RELA fusion-positive anaplastic ependymoma: molecular characterization and advanced MR imaging. ( 29063976 )
2018
10
Intramedullary ependymoma: long-term outcome after surgery. ( 29280009 )
2018
11
Establishment of primary cell culture and an intracranial xenograft model of pediatric ependymoma: a prospect for therapy development and understanding of tumor biology. ( 29774098 )
2018
12
Multiple extraspinal recurrences of ependymoma 13 years after spinal cordectomy: case report. ( 29701571 )
2018
13
Extraspinal sacrococcygeal ependymoma masquerading as sacrococcygeal teratoma in the pediatric patient. ( 29138922 )
2018
14
Imaging biomarkers of outcome after radiotherapy for pediatric ependymoma. ( 29500084 )
2018
15
Teaching Case 2-2018: Sclerosing myxopapillary ependymoma mimicking whorling-sclerosing meningioma. ( 29436365 )
2018
16
Supratentorial Pure Cortical Ependymoma: An Unusual Lesion Causing Focal Motor Aware Seizure. ( 29725181 )
2018
17
Pediatric extraspinal sacrococcygeal ependymoma (ESE): an Italian AIEOP experience of six cases and literature review. ( 29725826 )
2018
18
Gastroparesis following resection of a fourth ventricle ependymoma in a child. ( 29933085 )
2018
19
Therapeutic targeting of ependymoma as informed by oncogenic enhancer profiling. ( 29258295 )
2018
20
Ependymoma Superenhancer Profiling Reveals Potential Therapeutic Targets. ( 29330264 )
2018
21
Supratentorial Extraventricular Ependymoma (STEE): Retrospective analysis of 15 patients at a Single Institution. ( 29879510 )
2018
22
Surgical outcomes of spinal cord and cauda equina ependymoma: Postoperative motor status and recurrence for each WHO grade in a multicenter study. ( 29610008 )
2018
23
Identification of FDA-approved oncology drugs with selective potency in high-risk childhood ependymoma. ( 29925527 )
2018
24
Giant cell ependymoma of cervical medullary junction: a case report of a long term survivor and review of literature. ( 29772366 )
2018
25
Radiation necrosis following proton therapy successfully treated by low-dose bevacizumab in a patient with relapsed anaplastic ependymoma. ( 29667785 )
2018
26
Prognostic and microRNA profile analysis for CD44 positive expression pediatric posterior fossa ependymoma. ( 29704232 )
2018
27
Pediatric Isolated Cortical (Ectopic) Anaplastic Ependymoma. ( 29492147 )
2018
28
An Extremely Rare Case of Back and Hip Pain due to the Metastasis of Late Recurrent Myxopapillary Ependymoma to the Inguinal Lymph Node. ( 29166763 )
2018
29
A De Novo Mouse Model of C11orf95-RELA Fusion-Driven Ependymoma Identifies Driver Functions in Addition to NF-I_B. ( 29949764 )
2018
30
Simultaneous cerebrospinal fluid and hematologic metastases in a high-grade ependymoma. ( 29770253 )
2018
31
A Mouse Ependymoma Model Provides Molecular Insights into Tumor Formation. ( 29949754 )
2018
32
Specific expression of PD-L1 in RELA-fusion supratentorial ependymoma: Implications for PD-1-targeted therapy. ( 29350470 )
2018
33
Resistance promoting effects of ependymoma treatment revealed through genomic analysis of multiple recurrences in a single patient. ( 29440180 )
2018
34
Pineal Anaplastic Ependymoma With Multifocal Intradural Extramedullary Metastases on MRI and 18FDG-PET. ( 30080187 )
2018
35
Preoperative and intraoperative perfusion magnetic resonance imaging in a RELA fusion-positive anaplastic ependymoma: A case report. ( 30105138 )
2018
36
Pediatric Case of Li-Fraumeni Syndrome Complicated with Supratentorial Anaplastic Ependymoma. ( 30196175 )
2018
37
Microsurgical Resection of Anaplastic Ependymoma of the Cerebellopontine Angle in an Adult: 3-Dimensional Operative Video. ( 30295880 )
2018
38
Intramedullary spinal cord ependymoma and astrocytoma: intraoperative frozen-section diagnosis, extent of resection, and outcomes. ( 30485241 )
2018
39
Clinical, radiological, and histological features and treatment outcomes of supratentorial extraventricular ependymoma: 14 cases from a single center. ( 28686116 )
2018
40
Pituitary Ependymoma: A Case Report and Review of the Literature. ( 29102750 )
2018
41
Impact of radiation therapy and extent of resection for ependymoma in young children: A population-based study. ( 29115718 )
2018
42
MRI Characteristics of Spinal Ependymoma in WHO Grade II: A Review of 59 Cases. ( 29189641 )
2018
43
Metastases of spinal myxopapillary ependymoma: unique characteristics and clinical management. ( 29219779 )
2018
44
Remarkable efficacy of temozolomide for relapsed spinal myxopapillary ependymoma with multiple recurrence and cerebrospinal dissemination: a case report and literature review. ( 29270703 )
2018
45
Patterns of relapse for children with localized intracranial ependymoma. ( 29511977 )
2018
46
Spinal ependymoma in adults: a multicenter investigation of surgical outcome and progression-free survival. ( 29521579 )
2018
47
Ependymoma. ( 29548057 )
2018
48
Heterogeneity within the PF-EPN-B ependymoma subgroup. ( 30019219 )
2018
49
MRI Phenotype of RELA-fused Pediatric Supratentorial Ependymoma. ( 30027327 )
2018
50
Is NF2 a Key Player of the Differentially Expressed Gene Between Spinal Cord Ependymoma and Intracranial Ependymoma? ( 30031196 )
2018

Variations for Ependymoma

ClinVar genetic disease variations for Ependymoma:

6 (show top 50) (show all 67)
# Gene Variation Type Significance SNP ID Assembly Location
1 MEN1 NM_000244.3(MEN1): c.711dup (p.Lys238Glnfs) duplication Pathogenic GRCh37 Chromosome 11, 64575111: 64575111
2 MEN1 NM_000244.3(MEN1): c.711dup (p.Lys238Glnfs) duplication Pathogenic GRCh38 Chromosome 11, 64807639: 64807639
3 GON4L NM_001282856.1(GON4L): c.2455A> G (p.Asn819Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 155742897: 155742897
4 GON4L NM_001282856.1(GON4L): c.2455A> G (p.Asn819Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 155773106: 155773106
5 HDAC3 NM_003883.3(HDAC3): c.50_55+5delACTACGGTGAG deletion Uncertain significance GRCh37 Chromosome 5, 141016298: 141016308
6 HDAC3 NM_003883.3(HDAC3): c.50_55+5delACTACGGTGAG deletion Uncertain significance GRCh38 Chromosome 5, 141636731: 141636741
7 SETD9 NM_001323022.1(SETD9): c.329_337delACATTGCCT (p.Ile111_Tyr113del) deletion Uncertain significance GRCh37 Chromosome 5, 56210766: 56210774
8 SETD9 NM_001323022.1(SETD9): c.329_337delACATTGCCT (p.Ile111_Tyr113del) deletion Uncertain significance GRCh38 Chromosome 5, 56914939: 56914947
9 BANP NM_079837.2(BANP): c.575A> G (p.Asn192Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 88052070: 88052070
10 BANP NM_079837.2(BANP): c.575A> G (p.Asn192Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 88018464: 88018464
11 SUV39H1 NM_003173.3(SUV39H1): c.415C> T (p.Arg139Cys) single nucleotide variant Uncertain significance rs368779259 GRCh37 Chromosome X, 48558731: 48558731
12 SUV39H1 NM_003173.3(SUV39H1): c.415C> T (p.Arg139Cys) single nucleotide variant Uncertain significance rs368779259 GRCh38 Chromosome X, 48700340: 48700340
13 FAM208A NM_001112736.1(FAM208A): c.97G> A (p.Glu33Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 56716938: 56716938
14 FAM208A NM_001112736.1(FAM208A): c.97G> A (p.Glu33Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 56682910: 56682910
15 POU3F4 NM_000307.4(POU3F4): c.1013C> T (p.Pro338Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 82764345: 82764345
16 POU3F4 NM_000307.4(POU3F4): c.1013C> T (p.Pro338Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 83509337: 83509337
17 PATZ1 NM_032050.1(PATZ1): c.562G> T (p.Asp188Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 31741027: 31741027
18 PATZ1 NM_032050.1(PATZ1): c.562G> T (p.Asp188Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 31345041: 31345041
19 KAT6B NM_012330.3(KAT6B): c.3827C> T (p.Pro1276Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 76788409: 76788409
20 KAT6B NM_012330.3(KAT6B): c.3827C> T (p.Pro1276Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 75028651: 75028651
21 KREMEN2 NM_172229.2(KREMEN2): c.494G> T (p.Gly165Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 3016650: 3016650
22 KREMEN2 NM_172229.2(KREMEN2): c.494G> T (p.Gly165Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 2966649: 2966649
23 DEPDC5 NM_001242897.1(DEPDC5): c.2705G> A (p.Trp902Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 32241141: 32241141
24 DEPDC5 NM_001242897.1(DEPDC5): c.2705G> A (p.Trp902Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 31845155: 31845155
25 NET1 NM_001047160.2(NET1): c.498G> T (p.Glu166Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 5494455: 5494455
26 NET1 NM_001047160.2(NET1): c.498G> T (p.Glu166Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 5452492: 5452492
27 SPRY3 NM_005840.2(SPRY3): c.55C> T (p.Arg19Cys) single nucleotide variant Uncertain significance rs779201129 GRCh37 Chromosome X, 155003588: 155003588
28 SPRY3 NM_005840.2(SPRY3): c.55C> T (p.Arg19Cys) single nucleotide variant Uncertain significance rs779201129 GRCh38 Chromosome X, 155773926: 155773926
29 SPRY3 NM_005840.2(SPRY3): c.55C> T (p.Arg19Cys) single nucleotide variant Uncertain significance rs779201129 GRCh38 Chromosome Y, 56960446: 56960446
30 VBP1 NM_003372.6(VBP1): c.331C> A (p.Leu111Met) single nucleotide variant Uncertain significance rs1000821034 GRCh37 Chromosome X, 154456711: 154456711
31 VBP1 NM_003372.6(VBP1): c.331C> A (p.Leu111Met) single nucleotide variant Uncertain significance rs1000821034 GRCh38 Chromosome X, 155228429: 155228429
32 ARHGAP32 NM_001142685.1(ARHGAP32): c.4703C> G (p.Thr1568Ser) single nucleotide variant Uncertain significance rs749174548 GRCh37 Chromosome 11, 128840363: 128840363
33 ARHGAP32 NM_001142685.1(ARHGAP32): c.4703C> G (p.Thr1568Ser) single nucleotide variant Uncertain significance rs749174548 GRCh38 Chromosome 11, 128970468: 128970468
34 OTUD5 NM_017602.3(OTUD5): c.1702C> A (p.Pro568Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 48780465: 48780465
35 OTUD5 NM_017602.3(OTUD5): c.1702C> A (p.Pro568Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 48923188: 48923188
36 KLHL21 NM_001324309.1(KLHL21): c.501G> C (p.Glu167Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6662377: 6662377
37 KLHL21 NM_001324309.1(KLHL21): c.501G> C (p.Glu167Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6602317: 6602317
38 NF2 NM_000268.3(NF2): c.551G> A (p.Trp184Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 22, 30051617: 30051617
39 NF2 NM_000268.3(NF2): c.551G> A (p.Trp184Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 22, 29655628: 29655628
40 LATS1 NM_001350339.1(LATS1): c.2050G> C (p.Asp684His) single nucleotide variant Uncertain significance rs750318192 GRCh37 Chromosome 6, 150001239: 150001239
41 LATS1 NM_001350339.1(LATS1): c.2050G> C (p.Asp684His) single nucleotide variant Uncertain significance rs750318192 GRCh38 Chromosome 6, 149680103: 149680103
42 MAP4K3 NM_003618.3(MAP4K3): c.899T> C (p.Phe300Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 39552678: 39552678
43 MAP4K3 NM_003618.3(MAP4K3): c.899T> C (p.Phe300Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 39325537: 39325537
44 TRAF3 NM_145725.2(TRAF3): c.53C> G (p.Pro18Arg) single nucleotide variant Uncertain significance rs145456077 GRCh37 Chromosome 14, 103336591: 103336591
45 TRAF3 NM_145725.2(TRAF3): c.53C> G (p.Pro18Arg) single nucleotide variant Uncertain significance rs145456077 GRCh38 Chromosome 14, 102870254: 102870254
46 LETM1 NM_012318.2(LETM1): c.286G> A (p.Val96Met) single nucleotide variant Uncertain significance rs753905629 GRCh37 Chromosome 4, 1843382: 1843382
47 LETM1 NM_012318.2(LETM1): c.286G> A (p.Val96Met) single nucleotide variant Uncertain significance rs753905629 GRCh38 Chromosome 4, 1841655: 1841655
48 TXNRD2 NM_006440.4(TXNRD2): c.1432G> C (p.Ala478Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 19865626: 19865626
49 TXNRD2 NM_006440.4(TXNRD2): c.1432G> C (p.Ala478Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 19878103: 19878103
50 HSD3B2 NM_001166120.1(HSD3B2): c.1004G> A (p.Arg335Gln) single nucleotide variant Uncertain significance rs985808078 GRCh37 Chromosome 1, 119965128: 119965128

Cosmic variations for Ependymoma:

9 (show all 14)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM5977674 RANBP2 central nervous system,spinal cord,glioma,anaplastic c.5736T>G p.S1912R 2:108766275-108766275 4
2 COSM23159 MEN1 central nervous system,fourth ventricle,glioma,ependymoma Grade III-IV c.1413G>A p.W471* 11:64804754-64804754 4
3 COSM150426 KMT2C central nervous system,spinal cord,glioma,anaplastic c.2963G>T p.C988F 7:152229936-152229936 4
4 COSM1179671 KMT2C central nervous system,spinal cord,glioma,anaplastic c.925C>T p.P309S 7:152273792-152273792 4
5 COSM253767 KMT2C central nervous system,spinal cord,glioma,anaplastic c.2959T>C p.Y987H 7:152229940-152229940 4
6 COSM227271 HSP90AB1 central nervous system,spinal cord,glioma,anaplastic c.2156G>A p.R719H 6:44253579-44253579 4
7 COSM327928 H3F3A central nervous system,spinal cord,glioma,anaplastic c.83A>T p.K28M 1:226064434-226064434 4
8 COSM3164376 GATA4 central nervous system,spinal cord,glioma,anaplastic c.1273G>A p.D425N 8:11758419-11758419 4
9 COSM5977673 ALOX12B central nervous system,spinal cord,glioma,anaplastic c.53C>T p.T18I 17:8087390-8087390 4
10 COSM4593267 central nervous system,spinal cord,glioma,anaplastic c.32C>T p.A11V 18:55403683-55403683 4
11 COSM150427 central nervous system,spinal cord,glioma,anaplastic c.2963G>T p.C988F 7:152229936-152229936 4
12 COSM253768 central nervous system,spinal cord,glioma,anaplastic c.2959T>C p.Y987H 7:152229940-152229940 4
13 COSM1179670 central nervous system,spinal cord,glioma,anaplastic c.925C>T p.P309S 7:152273792-152273792 4
14 COSM5977672 central nervous system,spinal cord,glioma,anaplastic c.53C>T p.T18I 17:8087390-8087390 4

Copy number variations for Ependymoma from CNVD:

7 (show top 50) (show all 1024)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13823 1 1 7200000 Deletion Ependymoma
2 15495 1 116080654 116108285 Amplification NHLH2 Ependymoma
3 15648 1 117745152 117779348 Deletion MAN1A2 Ependymoma
4 19381 1 150034000 245120000 Amplification Ependymoma
5 19382 1 150034000 245120000 Amplification Ependymoma
6 26308 1 198898833 198920273 Amplification LGR6 Ependymoma
7 31595 1 2869431 2902617 Amplification TLR5 Ependymoma
8 31803 1 3118000 5001000 Deletion Ependymoma
9 38299 10 101279725 101300855 Deletion NKX2 Ependymoma
10 38453 10 102724768 102752246 Deletion LZTS2 Ependymoma
11 38454 10 102724768 102752246 Deletion MRPL43 Ependymoma
12 38455 10 102724768 102752246 Deletion PEO1 Ependymoma
13 38456 10 102724768 102752246 Deletion SEMA4G Ependymoma
14 38866 10 105634726 105742493 Deletion OBFC1 Ependymoma
15 38867 10 105634726 105742493 Deletion SLK Ependymoma
16 38979 10 106855945 106907237 Deletion SORCS3 Ependymoma
17 39169 10 11151805 11236375 Deletion CUGBP2 Ependymoma
18 40763 10 13344307 13497936 Deletion PHYH Ependymoma
19 40764 10 13344307 13497936 Deletion SEPHS1 Ependymoma
20 40806 10 133827559 133847021 Amplification C10orf39 Ependymoma
21 40809 10 133852261 133910912 Deletion DPYSL4 Ependymoma
22 40810 10 133852261 133910912 Deletion STK32C Ependymoma
23 40887 10 134410586 134892955 Deletion C10orf92 Ependymoma
24 40888 10 134410586 134892955 Deletion C10orf93 Ependymoma
25 40889 10 134410586 134892955 Deletion GPR123 Ependymoma
26 40890 10 134410586 134892955 Deletion INPP5A Ependymoma
27 40891 10 134410586 134892955 Deletion KNDC1 Ependymoma
28 40892 10 134410586 134892955 Deletion NKX6 Ependymoma
29 41033 10 135073302 135095235 Amplification ECHS1 Ependymoma
30 41034 10 135073302 135095235 Amplification PAOX Ependymoma
31 41074 10 135176625 135276748 Deletion CYP2E1 Ependymoma
32 41075 10 135176625 135276748 Deletion FLJ44653 Ependymoma
33 41076 10 135176625 135276748 Deletion SYCE1 Ependymoma
34 41910 10 25665327 25756077 Deletion GPR158 Ependymoma
35 42307 10 3169189 3180797 Deletion PITRM1 Ependymoma
36 44077 10 5175582 5187881 Deletion AKR1CL1 Ependymoma
37 44224 10 53651276 53712562 Deletion PRKG1 Ependymoma
38 44704 10 6170011 6268419 Deletion RBM17 Ependymoma
39 45199 10 68970214 69114993 Deletion CTNNA3 Ependymoma
40 45273 10 69645873 69701073 Deletion ATOH7 Ependymoma
41 45408 10 70846341 70896472 Deletion TSPAN15 Ependymoma
42 45468 10 71234506 71351772 Deletion COL13A1 Ependymoma
43 45538 10 71990162 72295747 Deletion ADAMTS14 Ependymoma
44 45539 10 71990162 72295747 Deletion C10orf27 Ependymoma
45 45540 10 71990162 72295747 Deletion KIAA1274 Ependymoma
46 45541 10 71990162 72295747 Deletion PRF1 Ependymoma
47 45542 10 71990162 72295747 Deletion SGPL1 Ependymoma
48 45578 10 72636128 72774965 Deletion SLC29A3 Ependymoma
49 45579 10 72636128 72774965 Deletion UNC5B Ependymoma
50 45628 10 73121579 73231404 Deletion C10orf54 Ependymoma

Expression for Ependymoma

Search GEO for disease gene expression data for Ependymoma.

Pathways for Ependymoma

GO Terms for Ependymoma

Biological processes related to Ependymoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Bergmann glial cell differentiation GO:0060020 9.16 GFAP VIM
2 response to cobalamin GO:0033590 8.96 EGFR RELA
3 intermediate filament-based process GO:0045103 8.62 GFAP VIM

Molecular functions related to Ependymoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.28 EGFR GFAP RB1 RELA S100B SYP

Sources for Ependymoma

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
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