Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MNGMA
MCID: MNN043
MIFTS: 74

Meningioma, Familial (MNGMA)

Categories: Cancer diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Meningioma, Familial

About this section

MalaCards integrated aliases for Meningioma, Familial:

Name: Meningioma, Familial 57 29 6 44
Meningioma 57 12 75 53 74 15 72
Familial Meningioma 12 74 15 72
Intracranial Meningioma 12 55 72
Meningeal Neoplasms 6 44 72
Meningioma, Familial, Susceptibility to 57 40
Supratentorial Meningioma 12 72
Meningeal Neoplasm 12 17
Meningioma, Benign, No Icd-O Subtype 72
Meningioma, Nf2-Related, Somatic 57
Familial Multiple Meningioma 59
Meningothelial Cell Neoplasm 72
Meningothelial Cell Tumor 12
Neoplasm of the Meninges 12
Meningioma, Sis-Related 57
Primary Meningeal Tumor 12
Meningiomas 15
Mngma 74

Characteristics:

Orphanet epidemiological data:

59
familial multiple meningioma
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

57
Miscellaneous:
adult onset
incomplete penetrance
more common in women
frequency increases with advancing age
high recurrence rate

Inheritance:
autosomal dominant


HPO:

32
meningioma, familial:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset incomplete penetrance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:3565 DOID:4586
OMIM 57 607174
ICD10 33 D32.9
ICD10 via Orphanet 34 D32.9
Orphanet 59 ORPHA263662
UMLS 72 C0025284 C0025286 C0349604 more
Sources

Summaries for Meningioma, Familial

About this section
NIH Rare Diseases : 53 Meningiomas are tumors that originate in the meninges, the membranes that surround the brain and spinal cord. Most meningiomas are not cancerous (benign), though a minority of meningiomas can be classified as atypical or cancerous (malignant). Though rare, malignant meningiomas can be highly aggressive. However, even benign meningiomas can cause problems if their growth affects neighboring areas of the brain. Though most meningiomas grow slowly, there is no way to predict the rate of growth for a particular meningioma or to know how long a specific meningioma was growing before it was diagnosed. Signs and symptoms can vary but may include seizures, headaches, weakness in the arms and legs, and vision loss. Sometimes memory loss, carelessness, and unsteadiness are the only symptoms. Management depends on the location of the meningioma and symptoms present and may include observation, surgery, and/or radiation therapy.

MalaCards based summary : Meningioma, Familial, also known as meningioma, is related to rhabdoid meningioma and meningothelial meningioma, and has symptoms including seizures and headache. An important gene associated with Meningioma, Familial is SMARCE1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily E, Member 1), and among its related pathways/superpathways are Gastric cancer and Glioblastoma Multiforme. The drugs Thrombin and Hemostatics have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and bone, and related phenotypes are meningioma and Decreased viability

OMIM : 57 Meningiomas are, in general, slowly growing benign tumors derived from the arachnoidal cap cells of the leptomeninges, the soft coverings of the brain and spinal cord. Meningiomas are believed to be the most common primary tumors of the central nervous system in man. The vast majority of meningiomas are sporadic; familial occurrence of meningioma is rare (Zang, 2001). Familial or multiple meningiomas may also be seen in tumor predisposition syndromes. Some patients with schwannomatosis (162091), caused by mutation in the SMARCB1 gene, may develop meningiomas. One patient with malignant gliomas (GLM2; 613028) associated with a mutation in the PTEN gene (601728) developed a meningioma (Staal et al., 2002). (607174)

UniProtKB/Swiss-Prot : 74 Meningioma: A common neoplasm of the central nervous system derived from arachnoidal cells. The majority of meningiomas are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Most cases are sporadic. Familial occurrence of meningioma is rare.

Wikipedia : 75 Meningioma, also known as meningeal tumor, is typically a slow-growing tumor that forms from the... more...

Sources

Related Diseases for Meningioma, Familial

About this section

Diseases in the Benign Meningioma family:

Meningioma, Familial

Diseases related to Meningioma, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1094)
# Related Disease Score Top Affiliating Genes
1 rhabdoid meningioma 34.9 SMARCB1 NF2
2 meningothelial meningioma 34.9 SMARCE1 NF2
3 olfactory groove meningioma 34.7 PGR NF2
4 benign meningioma 34.6 SMARCE1 PGR PCNA NF2 MKI67 EPB41L3
5 spinal canal and spinal cord meningioma 34.5 SMARCE1 PGR NF2
6 clear cell meningioma 34.3 SMARCE1 PGR
7 neurofibromatosis, type ii 34.1 RDX NF2 MSN EPB41L3
8 schwannomatosis 1 33.6 SMARCB1 NF2
9 neurilemmoma 32.5 SMARCB1 NF2 MSN
10 endometriosis 32.4 PTEN PGR ESR1
11 monosomy 22 32.2 SMARCB1 NF2
12 medulloblastoma 31.8 SUFU SSTR2 SMARCB1 PTEN PDGFB
13 brain cancer 31.6 SMARCB1 PTEN PDGFB NF2
14 spinal meningioma 31.6 SMARCE1 PGR NF2
15 oligodendroglioma 31.6 PTEN PDGFB PCNA
16 leiomyoma 31.0 PGR MKI67 ESR1
17 neurilemmomatosis 31.0 SMARCE1 SMARCB1 NF2
18 endometrial stromal sarcoma 30.9 PGR PCNA ESR1
19 meningioma, radiation-induced 30.9 RDX PGR PDGFB PCNA NF2 MSN
20 nervous system cancer 30.9 SMARCB1 PTEN NF2
21 spinal cord ependymoma 30.8 NF2 EPB41L3 EPB41
22 adenosarcoma 30.8 PGR MKI67 ESR1
23 retroperitoneal leiomyosarcoma 30.6 SMARCB1 PGR
24 optic nerve sheath meningioma 12.5
25 intraorbital meningioma 12.4
26 childhood brain meningioma 12.3
27 lung meningioma 12.3
28 fibrous meningioma 12.3
29 transitional meningioma 12.3
30 brain meningioma 12.3
31 chordoid meningioma 12.3
32 cavernous sinus meningioma 12.3
33 cerebral meningioma 12.3
34 skull base meningioma 12.3
35 tuberculum sellae meningioma 12.3
36 foramen magnum meningioma 12.2
37 microcystic meningioma 12.2
38 angiomatous meningioma 12.2
39 cerebellopontine angle meningioma 12.2
40 psammomatous meningioma 12.2
41 parasagittal meningioma 12.2
42 clivus meningioma 12.2
43 pineal region meningioma 12.2
44 petrous apex meningioma 12.2
45 petroclival meningioma 12.2
46 anterior cranial fossa meningioma 12.2
47 intraventricular meningioma 12.2
48 choroid plexus meningioma 12.2
49 cerebral falx meningioma 12.2
50 lower clivus meningioma 12.2

Graphical network of the top 20 diseases related to Meningioma, Familial:



Diseases related to Meningioma, Familial
Sources

Symptoms & Phenotypes for Meningioma, Familial

About this section

Human phenotypes related to Meningioma, Familial:

32
# Description HPO Frequency HPO Source Accession
1 meningioma 32 HP:0002858

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
meningioma

Clinical features from OMIM:

607174

UMLS symptoms related to Meningioma, Familial:


seizures, headache

GenomeRNAi Phenotypes related to Meningioma, Familial according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.28 LCK SMARCB1
2 Decreased viability GR00221-A-2 10.28 LCK PDGFB SMARCB1
3 Decreased viability GR00221-A-3 10.28 LCK NF2 PDGFB SMARCB1
4 Decreased viability GR00240-S-1 10.28 PDGFB
5 Decreased viability GR00301-A 10.28 LCK
6 Decreased viability GR00342-S-1 10.28 LCK
7 Decreased viability GR00342-S-3 10.28 LCK
8 Decreased viability GR00381-A-1 10.28 SMARCB1
9 Decreased viability GR00402-S-2 10.28 LCK NF2 PDGFB SMARCB1
10 Increased cell death HMECs cells GR00103-A-0 9.73 LCK PCNA PDCD10 PDGFB PGR PTEN
11 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.46 ESR1 MKI67 PCNA PTEN
12 Increased Nanog expression GR00371-A-1 9.35 MKI67 PCNA SMARCB1 SMARCE1
13 Increased Nanog expression GR00371-A-2 9.35 SMARCE1
14 Increased proliferation GR00094-A 8.62 NF2 SMARCB1

MGI Mouse Phenotypes related to Meningioma, Familial:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 EPB41L3 ESR1 MN1 NF2 PDCD10 PGR
2 homeostasis/metabolism MP:0005376 10.18 EPB41 ESR1 MN1 NF2 PDCD10 PDGFB
3 immune system MP:0005387 10.15 EPB41 ESR1 LCK NF2 PCNA PDCD10
4 hematopoietic system MP:0005397 10.13 EPB41 ESR1 LCK PCNA PDCD10 PDGFB
5 embryo MP:0005380 10.11 ESR1 LCK NF2 PDCD10 PDGFB PGR
6 mortality/aging MP:0010768 10.1 EPB41 EPB41L3 ESR1 MN1 NF2 PCNA
7 liver/biliary system MP:0005370 9.92 EPB41 ESR1 NF2 PDGFB PTEN RDX
8 neoplasm MP:0002006 9.81 EPB41L3 ESR1 MN1 NF2 PDCD10 PGR
9 normal MP:0002873 9.56 EPB41L3 ESR1 MKI67 MSN PDCD10 PGR
10 reproductive system MP:0005389 9.32 EPB41L3 ESR1 LCK NF2 PCNA PDGFB
Sources

Drugs & Therapeutics for Meningioma, Familial

About this section

DrugBank drugs 16 :

# Drug Name Indication DrugBank ID
1 Hydroxyurea For management of melanoma, resistant chronic myelocytic leukemia, and recurrent, metastatic, or inoperable carcinoma of the ovary and Sickle-cell anemia. DB01005

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

(show top 50) (show all 265)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thrombin Approved, Investigational Phase 4
2 Hemostatics Phase 4
3 Coagulants Phase 4
4 Fibrin Tissue Adhesive Phase 4
5
Tranexamic Acid Approved Phase 3 1197-18-8 5526
6
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
7
Donepezil Approved Phase 3 120014-06-4 3152
8
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
9
Granisetron Approved, Investigational Phase 3 109889-09-0 3510
10
Ondansetron Approved Phase 3 99614-02-5 4595
11
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
12
Cisatracurium Approved Phase 3 96946-41-7
13
Sevoflurane Approved, Vet_approved Phase 3 28523-86-6 5206
14
Propofol Approved, Investigational, Vet_approved Phase 3 2078-54-8 4943
15
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 3 7487-88-9 24083
16
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
17
Methylphenidate Approved, Investigational Phase 3 113-45-1 4158
18
Histamine Approved, Investigational Phase 3 51-45-6 774
19
Cyproheptadine Approved Phase 3 129-03-3 2913
20
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
21 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
22 Antifibrinolytic Agents Phase 3
23 Peripheral Nervous System Agents Phase 3
24 Progestins Phase 3
25 Cholinesterase Inhibitors Phase 3
26 Cholinergic Agents Phase 3
27 Nootropic Agents Phase 3
28 Liver Extracts Phase 3
29 Emetics Phase 3
30 Cola Phase 3
31 Anesthetics, Intravenous Phase 3
32 Narcotics Phase 3
33 Analgesics, Opioid Phase 3
34 Adjuvants, Anesthesia Phase 3
35 Anesthetics, General Phase 3
36 Central Nervous System Depressants Phase 3
37 Anesthetics Phase 3
38 Anti-Arrhythmia Agents Phase 3
39 calcium channel blockers Phase 3
40 Calcium, Dietary Phase 3
41 Analgesics Phase 3
42 Tocolytic Agents Phase 3
43 Antihypertensive Agents Phase 3
44 Anticonvulsants Phase 3
45 Vasoconstrictor Agents Phase 3
46 Gastrointestinal Agents Phase 3
47 Dermatologic Agents Phase 3
48 Central Nervous System Stimulants Phase 3
49 Neurotransmitter Agents Phase 3
50 Dexmethylphenidate Hydrochloride Phase 3

Interventional clinical trials:

(show top 50) (show all 210)
# Name Status NCT ID Phase Drugs
1 Neurocognitive Outcome Assessment in Patients With Peri-optic Meningiomas After Excision With Or Without Pealing Of The Outer Layer Of The Cavernous Sinus: A Randomized Controlled Single Blinded Trial. Unknown status NCT03190122 Phase 4
2 Dissection of the Outer Layer of the Lateral Wall of the Cavernous Sinus Decreases Bleeding as Compared to Direct Tumor Attack in Middle Fossa Meningiomas: A Randomized Controlled Trial Unknown status NCT02863484 Phase 4
3 A Prospective, Randomized, Controlled Phase IV Study to Compare Bioseal Versus Standard of Care as an Adjunct to Hemostasis in Elective Brain Tumor Surgery Completed NCT02034799 Phase 4
4 PHASE 3 STUDY OF EFFICACY OF TRANEXAMIC ACID IN BRAIN TUMORS RESECTIONS Unknown status NCT01655927 Phase 3 Tranexamic Acid;Placebo: Saline
5 Efficacy of Stereotactic Conformal Radiotherapy (SCRT) Compared to Conventional Radiotherapy in Minimising Late Sequelae in Children and Young Adults With Brain Tumours: a Randomised Clinical Trial Unknown status NCT00517959 Phase 3
6 Prospective Study Of Patients With Recurrent Or Incomplete Excised Benign Intercranial Meningiomas For The Evaluation Of Treatment Result With Combined Proton And Photon Irradiation To Doses 55.8 Or 63.0 CGE Completed NCT02947984 Phase 3
7 Double Blind Randomized Trial of the Anti-Progestational Agent Mifepristone In The Treatment of Unresectable Meningioma Completed NCT03015701 Phase 3 Mifepristone
8 Phase III Double Blind, Placebo Controlled Study of Donepezil in the Irradiated Brain Completed NCT00369785 Phase 3 donepezil hydrochloride;Placebo
9 Randomized Controlled Trial of Acupressure to Control Chemotherapy-Induced Nausea (CIN) in Children Receiving Highly Emetogenic Chemotherapy Completed NCT01346267 Phase 3
10 A Randomized, Double-blind, Placebo-controlled Multi-center Study to Evaluate the Safety and Efficacy of Fentanyl Sublingual Spray (Fentanyl SL Spray) for the Treatment of Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
11 Phase III Trial of Observation Versus Irradiation for a Gross Totally Resected Grade II Meningioma Recruiting NCT03180268 Phase 3
12 The Effect of Magnesium Sulphate on Intraoperative Blood Loss in Meningioma Patient Undergoing Craniotomy With Tumor Removal Not yet recruiting NCT03558516 Phase 3 Magnesium group;Normal saline group
13 Observation Versus Conventional-Fractionated Radiotherapy or Radiosurgery After Non-radical Surgery for Benign Intracranial Meningiomas: A Phase III Study Terminated NCT00104936 Phase 3
14 A Phase III, Double-Blind, Prospective Randomized Clinical Trial of the Effect of D-threo-methylphenidate HCl (d-MPH) on Quality of Life in Brain Tumor Patients Receiving Radiation Therapy Terminated NCT00031798 Phase 3 methylphenidate hydrochloride
15 Prevention of Cancer/Treatment-Related Weight Loss in Children at High Nutritional Risk Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
16 Combination of Everolimus and Octreotide LAR in Aggressive Recurrent Meningiomas. Unknown status NCT02333565 Phase 2 Everolimus;Octreotide
17 IMATINIB Plus Hydroxyurea in the Treatment of Recurrent or Progressive Meningiomas: a Randomized Phase II Study Unknown status NCT00904735 Phase 2 hydroxyurea;imatinib mesylate
18 Feasibility and Phase II Study Using Proton Radiation For WHO Grade I-III Meningiomas and Hemangiopericytomas Unknown status NCT01117844 Phase 1, Phase 2
19 Phase II Study of Hydroxyurea for the Treatment of Recurrent and/or Nonoperable Meningioma Unknown status NCT00006119 Phase 2 hydroxyurea
20 Icotinib Hydrochloride Tablets Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Unknown status NCT02934256 Phase 2 Icotinib
21 Proton Radiation for Low Grade Gliomas Unknown status NCT01024907 Phase 1, Phase 2
22 Phase II Study of Monthly SOM230C for Recurrent or Progressive Meningioma Completed NCT00859040 Phase 2 SOM230C
23 Phase II Study to Evaluate the Efficacy of Recombinant Interferon-Alpha in the Treatment of Recurrent Unresectable Meningiomas and Malignant Meningiomas Completed NCT00002965 Phase 2
24 A Phase II Trial of PTK-787 in Recurrent or Progressive Meningiomas Completed NCT00348790 Phase 2 vatalanib
25 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
26 Combination of Hydroxyurea and Verapamil for Refractory Meningiomas Completed NCT00706810 Phase 2 Hydroxyurea;Verapamil
27 Trabectedin for Recurrent Grade II or III Meningioma: a Randomized Phase II Study of the EORTC Brain Tumor Group Completed NCT02234050 Phase 2 Trabectedin
28 Phase II Study of Hydroxyurea for Unresectable Meningioma Completed NCT00003590 Phase 2 hydroxyurea
29 Adjuvant Postoperative High-Dose Radiotherapy for Atypical and Malignant Meningioma: a Phase-II and Observation Study Completed NCT00626730 Phase 2
30 A Phase II Study of Imatinib Mesylate Plus Hydroxyurea in the Treatment of Patients With Recurrent/Progressive Meningioma Completed NCT00354913 Phase 2 hydroxyurea;imatinib mesylate
31 Phase II Trial of STI571 (NSC 716051) in Patients With Recurrent Meningioma Completed NCT00045734 Phase 2 imatinib mesylate
32 A Feasibility Study of Armodafinil for Brain Radiation-Induced Fatigue Completed NCT01032200 Phase 2 Armodafinil
33 Phase I/II Trial of STI571 (NSC 716051) in Patients With Recurrent Malignant Gliomas Completed NCT00010049 Phase 1, Phase 2 imatinib mesylate
34 Levetiracetam and Pregabalin for Monotherapy in Patients With Brain Tumors and Seizures. A Phase II Randomized Study. Completed NCT00629889 Phase 2 levetiracetam;pregabalin
35 A Phase I/II Trial of OSI-774 in Patients With Recurrent Malignant Gliomas and Malignant Gliomas Post Radiation Therapy Completed NCT00045110 Phase 1, Phase 2 erlotinib hydrochloride
36 A Phase II Trial of Rebeccamycin Analogue (NSC #655649) in Children With Solid Tumors Completed NCT00006102 Phase 2 becatecarin
37 Phase II Treatment of Children With Newly Diagnosed Malignant Central Nervous System Tumors With Temozolomide Prior to Radiation Therapy Completed NCT00005955 Phase 2 temozolomide
38 A Randomized Phase II Trial of Bevacizumab to Control Brain Radiation Damage Completed NCT00492089 Phase 2 bevacizumab;placebo
39 Recombinant Human Endostatin Injection Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors by Continuous Intravenous Pumping Completed NCT02104323 Phase 2 Endostatin
40 A Phase I/II Trial of SU5416 in Patients With Recurrent High Grade Astrocytomas or Mixed Gliomas Completed NCT00004868 Phase 1, Phase 2 semaxanib
41 Phase I Study of At-Labeled Anti-Tenascin Human/Mouse Chimeric Monoclonal Antibody 81C6 (ch81C6) Via Surgically Created Cystic Resection Cavity in the Treatment of Patients With Primary or Metastatic Brain Tumors Completed NCT00003461 Phase 1, Phase 2
42 Donepezil and EGb761 in Improving Neurocognitive Function in Patients Who Have Previously Undergone Radiation Therapy for Primary Brain Tumor or Brain Metastases Completed NCT00070161 Phase 2 donepezil hydrochloride
43 Phase II Trial of Irinotecan in Children With Refractory Solid Tumors Completed NCT00004078 Phase 2 irinotecan hydrochloride
44 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
45 Phase II Trial Of High Dose Cyclophosphamide, Cisplatin And Carmustine With Stem Cell Reconstitution Followed By Specific Cellular Therapy In Patients With Recurrent Or Refractory Brain Tumors Completed NCT00014573 Phase 2 carmustine;cisplatin;cyclophosphamide;paclitaxel
46 Phase 2 Study of Bevacizumab in Children and Adults With Neurofibromatosis Type 2 and Symptomatic Vestibular Schwannoma Completed NCT01207687 Phase 2
47 Phase II Study of Lapatinib in Children and Adults With Neurofibromatosis Type 2(NF2) and NF2-related Tumors Completed NCT00973739 Phase 2 Lapatinib
48 A Single Arm Phase II Study Of The Dual mTORC1/mTORC2 Inhibitor Vistusertib (AZD2014) Provided On An Intermittent Schedule For Sporadic Patients With Grade II-III Meningiomas That Recur Or Progress After Surgery And Radiation Recruiting NCT03071874 Phase 2 AZD2014
49 An Open-Label Phase II Study of Nivolumab in Adult Participants With Recurrent High-Grade Meningioma Recruiting NCT02648997 Phase 2 Nivolumab - 240 mg;Ipilimumab - 3 mg/kg;Nivolumab - 480 mg;Nivolumab - 1 mg/kg
50 A Phase 2, Single Arm, Multi-center, Open Label Trial Combining Optune With Concurrent Bevacizumab in the Setting of Recurrent or Progressive Meningioma Recruiting NCT02847559 Phase 2

Search NIH Clinical Center for Meningioma, Familial

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Cytarabine
Cytarabine liposome
Hydroxyurea
Mifepristone

Cochrane evidence based reviews: meningeal neoplasms

Sources

Genetic Tests for Meningioma, Familial

About this section

Genetic tests related to Meningioma, Familial:

# Genetic test Affiliating Genes
1 Meningioma, Familial 29 MN1 NF2 PDGFB PTEN SMARCE1 SUFU
Sources

Anatomical Context for Meningioma, Familial

About this section

MalaCards organs/tissues related to Meningioma, Familial:

41
Brain, Spinal Cord, Bone, Pituitary, Breast, Lung, Pineal
Sources

Publications for Meningioma, Familial

About this section

Articles related to Meningioma, Familial:

(show top 50) (show all 13730)
# Title Authors PMID Year
1
Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas. 38 8 71
23377182 2013
2
Loss of SUFU function in familial multiple meningioma. 38 8 71
22958902 2012
3
Common variation at 10p12.31 near MLLT10 influences meningioma risk. 38 8
21804547 2011
4
Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas. 38 8
20930055 2011
5
A novel germline mutation of PTEN associated with brain tumours of multiple lineages. 38 8
12085208 2002
6
Meningioma: a cytogenetic model of a complex benign human tumor, including data on 394 karyotyped cases. 38 8
11528114 2001
7
Familial meningioma: analysis of expression of neurofibromatosis 2 protein Merlin. Report of two cases. 38 8
9488313 1998
8
Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma. 38 8
7717450 1995
9
Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma. 38 8
7731706 1995
10
Characterization of a new member of the human beta-adaptin gene family from chromosome 22q12, a candidate meningioma gene. 38 8
7987321 1994
11
Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas. 38 8
8162072 1994
12
Familial meningioma is not allelic to neurofibromatosis 2. 38 8
8413972 1993
13
Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus. 38 8
8401504 1993
14
Familial CNS tumors. 38 8
1512611 1992
15
Loss of heterozygosity for chromosome 22 DNA sequences in human meningioma. 38 8
1676608 1991
16
A t(4;22) in a meningioma points to the localization of a putative tumor-suppressor gene. 38 8
2014801 1991
17
Parental origin of chromosome 22 alleles lost in meningioma. 38 8
1977313 1990
18
Equal parental origin of chromosome 22 losses in human sporadic meningioma: no evidence for genomic imprinting. 38 8
2220822 1990
19
Deletion of Alu sequences in the fifth c-sis intron in individuals with meningiomas. 38 8
2212004 1990
20
Molecular genetic analysis of chromosome 22 in 81 cases of meningioma. 38 8
2393856 1990
21
Familial meningioma. 38 8
2300254 1990
22
Loss of genes on the long arm of chromosome 22 in human meningiomas. 38 8
2897611 1988
23
Deletion mapping of a locus on human chromosome 22 involved in the oncogenesis of meningioma. 38 8
2892198 1987
24
Loss of heterozygosity and the origin of meningioma. 38 8
2891603 1987
25
Molecular genetic approach to human meningioma: loss of genes on chromosome 22. 38 8
3037550 1987
26
Familial meningiomas. Report of two cases. 38 8
3329680 1987
27
Chromosome translocation t(14;22) and oncogene (c-sis) variant in a pedigree with familial meningioma. 38 8
3969118 1985
28
[Meningioma and acoustic neurinoma occurring in two siblings of two different families]. 38 8
6518127 1984
29
Cytological and cytogenetical studies on human meningioma. 38 8
6288229 1982
30
Familial occurrence of meningioma: a case report. 38 8
6926386 1981
31
Cranial and spinal meningiomas in a pair of identical twin boys. 38 8
4714099 1973
32
Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations. 8
23334667 2013
33
Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri. 8
22038540 2012
34
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation. 8
19582488 2010
35
Multiple meningiomas in brain and lung due to acquired mutation of the NF2 gene. 8
15159511 2004
36
INI1 mutations in meningiomas at a potential hotspot in exon 9. 8
11161377 2001
37
Translocation (12;22) (p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12p13 to the MN1 gene on 22q11. 8
7731705 1995
38
Cytogenetic, molecular genetic and pathological analyses in 126 meningiomas. 8
7876890 1995
39
Multiple meningiomas in a patient with constitutional ring chromosome 22. 8
8213904 1993
40
Cancer. A gene for neurofibromatosis 2. 8
8505975 1993
41
Molecular genetics of neurological tumours. 8
1320124 1992
42
Cytogenetic studies in 50 meningiomas. 8
3162394 1988
43
Recessive cancer genes in meningiomas? An analysis of 31 cases. 8
3472644 1987
44
Multifocal meningiomas in a patient with a constitutional ring chromosome 22. 8
3712397 1986
45
Multiple and familial meningiomas without evidence of neurofibromatosis. 8
6782502 1980
46
Meningiomas in five members of a family over two generations, in one member simultaneously with acoustic neurinomas. 8
418361 1978
47
Phenotypic correlations in patients with ring chromosome 22. 8
912941 1977
48
Chromosomal consitution of meningiomas. 8
6050684 1967
49
Familial occurrence of meningiomas. Case report. 8
5852402 1965
50
FAMILIAL MENINGIOMAS. 8
14285655 1965
Sources

Variations for Meningioma, Familial

About this section

ClinVar genetic disease variations for Meningioma, Familial:

6 (show top 50) (show all 162)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SMARCE1 NM_003079.5(SMARCE1): c.313C> T (p.Arg105Ter) single nucleotide variant Pathogenic rs1060501395 17:38792703-38792703 17:40636451-40636451
2 SMARCE1 NM_003079.5(SMARCE1): c.757C> T (p.Gln253Ter) single nucleotide variant Pathogenic rs1555605347 17:38787903-38787903 17:40631651-40631651
3 SMARCE1 NM_003079.5(SMARCE1): c.454_455delinsT (p.Ala152fs) indel Pathogenic rs1555605750 17:38792269-38792270 17:40636017-40636018
4 PTEN NM_000314.7(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs121909231 10:89720852-89720852 10:87961095-87961095
5 PTEN NM_000314.7(PTEN): c.517C> T (p.Arg173Cys) single nucleotide variant Pathogenic rs121913293 10:89711899-89711899 10:87952142-87952142
6 SMARCE1 NM_003079.5(SMARCE1): c.624_627del (p.Ser208fs) deletion Pathogenic rs797045990 17:38788534-38788537 17:40632282-40632285
7 SMARCE1 NM_003079.5(SMARCE1): c.525del (p.Ala176fs) deletion Pathogenic rs878854603 17:38792199-38792199 17:40635947-40635947
8 PTEN NM_000314.7(PTEN): c.860C> G (p.Ser287Ter) single nucleotide variant Pathogenic/Likely pathogenic rs863224909 10:89720709-89720709 10:87960952-87960952
9 PTEN NM_000314.7(PTEN): c.253+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs1224040268 10:89690848-89690848 10:87931091-87931091
10 SMARCE1 NM_003079.5(SMARCE1): c.218A> G (p.Tyr73Cys) single nucleotide variant Likely pathogenic rs387906857 17:38793763-38793763 17:40637511-40637511
11 SUFU NM_016169.3(SUFU): c.367C> T (p.Arg123Cys) single nucleotide variant risk factor rs202247756 10:104309776-104309776 10:102550019-102550019
12 SMARCE1 NM_003079.5(SMARCE1): c.715C> T (p.Arg239Ter) single nucleotide variant risk factor rs397509405 17:38787945-38787945 17:40631693-40631693
13 SMARCE1 NM_003079.5(SMARCE1): c.237+2T> C single nucleotide variant risk factor rs397509406 17:38793742-38793742 17:40637490-40637490
14 SMARCE1 NM_003079.5(SMARCE1): c.311G> A (p.Trp104Ter) single nucleotide variant risk factor rs397509407 17:38792705-38792705 17:40636453-40636453
15 SMARCE1 NM_003079.5(SMARCE1): c.572dup (p.Ala192fs) duplication risk factor rs397509408 17:38788589-38788589 17:40632337-40632337
16 PTEN NM_000314.7(PTEN): c.404T> A (p.Ile135Lys) single nucleotide variant Likely pathogenic rs370795352 10:89692920-89692920 10:87933163-87933163
17 SMARCE1 NM_003079.5(SMARCE1): c.541+1G> A single nucleotide variant Likely pathogenic 17:38792182-38792182 17:40635930-40635930
18 SMARCE1 NM_003079.5(SMARCE1): c.1079G> A (p.Gly360Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs142193069 17:38785194-38785194 17:40628942-40628942
19 SMARCE1 NM_003079.5(SMARCE1): c.157-5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs776664220 17:38793829-38793829 17:40637577-40637577
20 SMARCE1 NM_003079.5(SMARCE1): c.149G> A (p.Arg50Gln) single nucleotide variant Uncertain significance rs1060501394 17:38798714-38798714 17:40642462-40642462
21 SMARCE1 NM_003079.5(SMARCE1): c.1095G> C (p.Glu365Asp) single nucleotide variant Uncertain significance rs773859296 17:38785178-38785178 17:40628926-40628926
22 SMARCE1 NM_003079.5(SMARCE1): c.868G> A (p.Ala290Thr) single nucleotide variant Uncertain significance rs1395650269 17:38787125-38787125 17:40630873-40630873
23 SMARCE1 NM_003079.5(SMARCE1): c.488G> A (p.Arg163His) single nucleotide variant Uncertain significance rs762623799 17:38792236-38792236 17:40635984-40635984
24 SMARCE1 NM_003079.5(SMARCE1): c.482A> G (p.Gln161Arg) single nucleotide variant Uncertain significance rs1555605748 17:38792242-38792242 17:40635990-40635990
25 SMARCE1 NM_003079.5(SMARCE1): c.440G> A (p.Ser147Asn) single nucleotide variant Uncertain significance rs779169160 17:38792284-38792284 17:40636032-40636032
26 SMARCE1 NM_003079.5(SMARCE1): c.1148G> A (p.Ser383Asn) single nucleotide variant Uncertain significance rs1555605079 17:38785125-38785125 17:40628873-40628873
27 SUFU NM_016169.3(SUFU): c.1379A> G (p.Lys460Arg) single nucleotide variant Uncertain significance rs778125780 10:104389836-104389836 10:102630079-102630079
28 SMARCE1 NM_003079.5(SMARCE1): c.1133C> T (p.Ala378Val) single nucleotide variant Uncertain significance rs771281023 17:38785140-38785140 17:40628888-40628888
29 SMARCE1 NM_003079.5(SMARCE1): c.1103A> G (p.Glu368Gly) single nucleotide variant Uncertain significance rs1555605086 17:38785170-38785170 17:40628918-40628918
30 SMARCE1 NM_003079.5(SMARCE1): c.1087A> G (p.Thr363Ala) single nucleotide variant Uncertain significance rs1555605096 17:38785186-38785186 17:40628934-40628934
31 SMARCE1 NM_003079.5(SMARCE1): c.1073_1075AAG[1] (p.Glu359del) short repeat Uncertain significance rs765354113 17:38785195-38785197 17:40628943-40628945
32 SMARCE1 NM_003079.5(SMARCE1): c.767A> G (p.Lys256Arg) single nucleotide variant Uncertain significance rs542193901 17:38787893-38787893 17:40631641-40631641
33 SMARCE1 NM_003079.5(SMARCE1): c.643G> A (p.Val215Ile) single nucleotide variant Uncertain significance rs376327613 17:38788518-38788518 17:40632266-40632266
34 SMARCE1 NM_003079.5(SMARCE1): c.955G> A (p.Val319Ile) single nucleotide variant Uncertain significance rs140414666 17:38787038-38787038 17:40630786-40630786
35 SMARCE1 NM_003079.5(SMARCE1): c.922G> A (p.Ala308Thr) single nucleotide variant Uncertain significance rs372988818 17:38787071-38787071 17:40630819-40630819
36 SUFU NM_016169.3(SUFU): c.275G> C (p.Ser92Thr) single nucleotide variant Uncertain significance rs746322193 10:104269018-104269018 10:102509261-102509261
37 SMARCE1 NM_003079.5(SMARCE1): c.1016C> T (p.Pro339Leu) single nucleotide variant Uncertain significance rs1060501398 17:38786977-38786977 17:40630725-40630725
38 SMARCE1 NM_003079.5(SMARCE1): c.370-6T> C single nucleotide variant Uncertain significance rs1060501397 17:38792360-38792360 17:40636108-40636108
39 SMARCE1 NM_003079.5(SMARCE1): c.57G> T (p.Met19Ile) single nucleotide variant Uncertain significance rs142279746 17:38798806-38798806 17:40642554-40642554
40 SMARCE1 NM_003079.5(SMARCE1): c.1212A> G (p.Ile404Met) single nucleotide variant Uncertain significance rs1060501396 17:38785061-38785061 17:40628809-40628809
41 SMARCE1 NM_003079.5(SMARCE1): c.1156A> G (p.Asn386Asp) single nucleotide variant Uncertain significance rs1555605077 17:38785117-38785117 17:40628865-40628865
42 SMARCE1 NM_003079.5(SMARCE1): c.1067A> G (p.Asn356Ser) single nucleotide variant Uncertain significance rs151220618 17:38785206-38785206 17:40628954-40628954
43 SMARCE1 NM_003079.5(SMARCE1): c.1003G> A (p.Asp335Asn) single nucleotide variant Uncertain significance rs767569116 17:38786990-38786990 17:40630738-40630738
44 SMARCE1 NM_003079.5(SMARCE1): c.896G> T (p.Arg299Met) single nucleotide variant Uncertain significance rs1555605248 17:38787097-38787097 17:40630845-40630845
45 SMARCE1 NM_003079.5(SMARCE1): c.823G> A (p.Gly275Ser) single nucleotide variant Uncertain significance rs745448272 17:38787170-38787170 17:40630918-40630918
46 SMARCE1 NM_003079.5(SMARCE1): c.821G> A (p.Cys274Tyr) single nucleotide variant Uncertain significance rs1413987767 17:38787172-38787172 17:40630920-40630920
47 SMARCE1 NM_003079.5(SMARCE1): c.790G> A (p.Asp264Asn) single nucleotide variant Uncertain significance rs1555605342 17:38787870-38787870 17:40631618-40631618
48 SMARCE1 NM_003079.5(SMARCE1): c.1025C> G (p.Thr342Arg) single nucleotide variant Uncertain significance rs367908836 17:38786968-38786968 17:40630716-40630716
49 SMARCE1 NM_003079.5(SMARCE1): c.938G> A (p.Arg313His) single nucleotide variant Uncertain significance rs201577008 17:38787055-38787055 17:40630803-40630803
50 SMARCE1 NM_003079.5(SMARCE1): c.1006G> A (p.Glu336Lys) single nucleotide variant Uncertain significance rs377136485 17:38786987-38786987 17:40630735-40630735

Cosmic variations for Meningioma, Familial:

9 (show top 50) (show all 6996)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM216037 SMO meninges,NS,meningioma,meningothelial c.1234C>T p.L412F 7:129206557-129206557 18
2 COSM13146 SMO meninges,NS,meningioma,meningothelial c.1604G>T p.W535L 7:129210500-129210500 18
3 COSM6936975 NTRK1 meninges,NS,meningioma,atypical c.1404C>A p.F468L 1:156875569-156875569 18
4 COSM21991 NF2 meninges,NS,meningioma,atypical c.169C>T p.R57* 22:29636805-29636805 18
5 COSM22000 NF2 meninges,NS,meningioma,meningothelial c.784C>T p.R262* 22:29661313-29661313 18
6 COSM22240 NF2 meninges,NS,meningioma,meningothelial c.634C>T p.Q212* 22:29658223-29658223 18
7 COSM22306 NF2 meninges,NS,meningioma,meningothelial c.600-3C>G p.? 22:29658186-29658186 18
8 COSM22301 NF2 meninges,NS,meningioma,meningothelial c.1340+1G>A p.? 22:29673487-29673487 18
9 COSM24538 NF2 meninges,NS,meningioma,atypical c.810+1G>A p.? 22:29661340-29661340 18
10 COSM22273 NF2 meninges,NS,meningioma,meningothelial c.1341-1G>A p.? 22:29674835-29674835 18
11 COSM22254 NF2 meninges,NS,meningioma,atypical c.586C>T p.R196* 22:29655663-29655663 18
12 COSM86033 NF2 meninges,NS,meningioma,meningothelial c.1264G>T p.E422* 22:29673410-29673410 18
13 COSM22294 NF2 meninges,NS,meningioma,meningothelial c.551G>A p.W184* 22:29655628-29655628 18
14 COSM23850 NF2 meninges,NS,meningioma,atypical c.447+1G>A p.? 22:29642286-29642286 18
15 COSM22432 NF2 meninges,NS,meningioma,atypical c.592C>T p.R198* 22:29655669-29655669 18
16 COSM22299 NF2 meninges,NS,meningioma,atypical c.114+1G>T p.? 22:29604113-29604113 18
17 COSM22300 NF2 meninges,NS,meningioma,atypical c.115-1G>C p.? 22:29636750-29636750 18
18 COSM22249 NF2 meninges,NS,meningioma,atypical c.1009C>T p.Q337* 22:29671835-29671835 18
19 COSM22339 NF2 meninges,NS,meningioma,meningothelial c.364-1G>C p.? 22:29642201-29642201 18
20 COSM23845 NF2 meninges,NS,meningioma,meningothelial c.552G>A p.W184* 22:29655629-29655629 18
21 COSM22210 NF2 meninges,NS,meningioma,meningothelial c.1198C>T p.Q400* 22:29673344-29673344 18
22 COSM49112 NF2 meninges,NS,meningioma,meningothelial c.517-1G>A p.? 22:29655593-29655593 18
23 COSM49113 NF2 meninges,NS,meningioma,meningothelial c.955C>T p.Q319* 22:29668402-29668402 18
24 COSM24552 NF2 meninges,NS,meningioma,meningothelial c.1341-2A>G p.? 22:29674834-29674834 18
25 COSM24551 NF2 meninges,NS,meningioma,meningothelial c.241-2A>C p.? 22:29639088-29639088 18
26 COSM6946913 DAXX meninges,NS,meningioma,atypical c.983G>C p.R328P 6:33320792-33320792 18
27 COSM5886913 CREBBP meninges,NS,meningioma,atypical c.4174C>T p.R1392* 16:3739684-3739684 18
28 COSM33765 AKT1 meninges,NS,meningioma,atypical c.49G>A p.E17K 14:104780214-104780214 18
29 COSM6936976 meninges,NS,meningioma,atypical c.1296C>A p.F432L 1:156875569-156875569 18
30 COSM1663043 meninges,NS,meningioma,atypical c.592C>T p.R198* 22:29655669-29655669 18
31 COSM40802 ZW10 central nervous system,brain,glioma,NS c.2140C>T p.P714S 11:113736699-113736699 6
32 COSM40801 ZSWIM4 central nervous system,brain,glioma,NS c.266C>T p.P89L 19:13799832-13799832 6
33 COSM6932117 ZRSR2 central nervous system,brain,glioma,NS c.271G>A p.E91K 23:15803755-15803755 6
34 COSM6948317 ZRSR2 central nervous system,brain,glioma,NS c.340C>T p.Q114* 23:15804138-15804138 6
35 COSM6959574 ZRSR2 central nervous system,brain,glioma,NS c.260G>A p.R87K 23:15803744-15803744 6
36 COSM6932118 ZRSR2 central nervous system,brain,glioma,NS c.961C>T p.P321S 23:15822754-15822754 6
37 COSM6973162 ZRSR2 central nervous system,brain,glioma,NS c.220G>A p.E74K 23:15803704-15803704 6
38 COSM39611 ZPLD1 central nervous system,brain,glioma,NS c.393A>T p.G131G 3:102456210-102456210 6
39 COSM40237 ZNF687 central nervous system,brain,glioma,NS c.3651C>T p.T1217T 1:151291146-151291146 6
40 COSM39318 ZNF687 central nervous system,brain,glioma,NS c.2044T>A p.C682S 1:151288335-151288335 6
41 COSM39317 ZNF687 central nervous system,brain,glioma,NS c.2043G>C p.Q681H 1:151288334-151288334 6
42 COSM39149 ZNF507 central nervous system,brain,glioma,NS c.1517G>C p.R506T 19:32354347-32354347 6
43 COSM40794 ZNF473 central nervous system,brain,glioma,NS c.42C>T p.D14D 19:50039193-50039193 6
44 COSM39217 ZMYND8 central nervous system,brain,glioma,NS c.2162T>G p.V721G 20:47246130-47246130 6
45 COSM40504 ZMYND8 central nervous system,brain,glioma,NS c.2176G>A p.D726N 20:47246116-47246116 6
46 COSM5977723 ZMYM2 central nervous system,spinal cord,glioma,NS c.1134-1G>T p.? 13:20005073-20005073 6
47 COSM5977724 ZMYM2 central nervous system,spinal cord,glioma,NS c.1134-1G>T p.? 13:20005073-20005073 6
48 COSM39507 ZMAT4 central nervous system,brain,glioma,NS c.76G>A p.E26K 8:40825601-40825601 6
49 COSM39445 ZIC1 central nervous system,brain,glioma,NS c.57G>A p.A19A 3:147410169-147410169 6
50 COSM6976869 ZFHX3 central nervous system,brain,glioma,NS c.4279G>A p.A1427T 16:72798403-72798403 6
Sources

Expression for Meningioma, Familial

About this section
Search GEO for disease gene expression data for Meningioma, Familial.
Sources

Pathways for Meningioma, Familial

About this section

Pathways related to Meningioma, Familial according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Gastric cancer 37
Show member pathways
 12.39 SMARCE1 SMARCB1 PTEN PGR ESR1
2
Glioblastoma Multiforme 64
11.59 PTEN PDGFB NF2
3
Tight junction 37
11.48 RDX PCNA NF2 MSN
4
Transcription Ligand-dependent activation of the ESR1/SP pathway 22
Show member pathways
 11.28 SMARCE1 SMARCB1 ESR1
5
PDGFR-beta signaling pathway 1
11.06 PTEN PDGFB LCK
6
RhoA signaling pathway 1
10.41 RDX PTEN MSN
Sources

GO Terms for Meningioma, Familial

About this section

Cellular components related to Meningioma, Familial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical part of cell GO:0045177 9.33 RDX NF2 MSN
2 nBAF complex GO:0071565 9.26 SMARCE1 SMARCB1
3 npBAF complex GO:0071564 8.96 SMARCE1 SMARCB1
4 filopodium GO:0030175 8.8 RDX NF2 MSN

Biological processes related to Meningioma, Familial according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.73 PGR PDGFB PDCD10 ESR1
2 positive regulation of gene expression GO:0010628 9.72 RDX PTEN PDGFB PDCD10 MSN
3 positive regulation of DNA-binding transcription factor activity GO:0051091 9.7 SMARCB1 PTEN ESR1
4 response to estradiol GO:0032355 9.69 PTEN PCNA ESR1
5 chromatin remodeling GO:0006338 9.65 SMARCE1 SMARCB1 ESR1
6 establishment of endothelial barrier GO:0061028 9.49 RDX MSN
7 positive regulation of cellular protein catabolic process GO:1903364 9.46 RDX MSN
8 negative regulation of cell size GO:0045792 9.4 RDX PTEN
9 positive regulation of early endosome to late endosome transport GO:2000643 9.37 RDX MSN
10 paracrine signaling GO:0038001 9.26 PGR PDGFB
11 regulation of cell shape GO:0008360 9.26 RDX MSN EPB41L3 EPB41
12 positive regulation of protein localization to early endosome GO:1902966 9.16 RDX MSN
13 regulation of organelle assembly GO:1902115 8.62 RDX MSN

Molecular functions related to Meningioma, Familial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.77 PTEN PGR PCNA MSN ESR1
2 actin binding GO:0003779 9.72 RDX NF2 MSN EPB41L3 EPB41
3 protein N-terminus binding GO:0047485 9.63 SMARCE1 PDCD10 EPB41
4 protein kinase binding GO:0019901 9.63 SUFU PTEN PDCD10 MSN LCK ESR1
5 structural constituent of cytoskeleton GO:0005200 9.61 MSN EPB41L3 EPB41
6 platelet-derived growth factor receptor binding GO:0005161 9.4 PTEN PDGFB
7 ATPase binding GO:0051117 9.26 RDX PGR LCK ESR1
8 cytoskeletal protein binding GO:0008092 9.02 RDX NF2 MSN EPB41L3 EPB41
9 protein binding GO:0005515 10.21 TRAF7 SUFU SSTR2 SMARCE1 SMARCB1 RDX
Sources

Sources for Meningioma, Familial

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 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
Content
Loading form....