Neurilemmomatosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Neurilemmomatosis

MalaCards integrated aliases for Neurilemmomatosis:

Name: Neurilemmomatosis ¹¹ ⁴² ¹⁴

Schwannomatosis ¹¹ ²⁴ ¹⁹ ⁴² ⁷⁵ ²⁸ ⁵³ ⁵ ⁴³ ⁷¹

Neurofibromatosis Type 3 ¹⁹ ⁴² ⁷⁵ ³³

Neurilemmomatosis Congenital Cutaneous ¹⁹ ⁵

Neurinomatosis ⁴² ⁷¹

Mixed Central and Peripheral Neurofibromatosis ³³

Neurilemmomatosis, Congenital Cutaneous ⁴²

Congenital Cutaneous Neurilemmomatosis ¹⁹

Nf3 - [neurofibromatosis Type 3] ³³

Multiple Neurilemmomas ⁴²

Multiple Schwannomas ⁴²

Neurofibromatosis 3 ⁷¹

Schwannomatosis 1 ⁷¹

Nf3 ¹⁹

Characteristics:

GeneReviews:

²⁴

Penetrance The data on penetrance are limited, though it is less than 100% for both smarcb1- and lztr1-related schwannomatosis [swensen et al 2009, plotkin et al 2013]. reduced penetrance is more frequently reported in individuals with lztr1-related schwannomatosis [piotrowski et al 2014, paganini et al 2015, smith et al 2015, gripp et al 2017].

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD11: ³³

Developmental anomalies

Multiple developmental anomalies or syndromes

Phakomatoses or hamartoneoplastic syndromes

Neurofibromatoses

Neurofibromatosis type 3

External Ids:

Disease Ontology ¹¹ DOID:3204

ICD9CM ³⁴ 237.73

MeSH ⁴³ C536641

NCIt ⁴⁹ C6557

SNOMED-CT ⁶⁸ 781641005

ICD11 ³³ 941488646

UMLS ⁷¹ C0334614 C0917817 C1335929 more

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Summaries for Neurilemmomatosis

MedlinePlus Genetics: ⁴² Schwannomatosis is a disorder characterized by multiple noncancerous (benign) tumors called schwannomas, which are a type of tumor that grows on nerves. Schwannomas develop when Schwann cells, which are specialized cells that normally form an insulating layer around the nerve, grow uncontrollably to form a tumor.The signs and symptoms of schwannomatosis usually appear in early adulthood. The most common symptom is long-lasting (chronic) pain, which can affect any part of the body. In some cases, the pain is felt in areas where there are no known tumors. The pain associated with this condition ranges from mild to severe and can be difficult to manage. Other signs and symptoms that can occur with schwannomatosis depend on the location of the tumors and which nerves are affected. These problems include numbness, weakness, tingling, and headaches. The life expectancy of people with schwannomatosis is normal.Schwannomatosis is usually considered to be a form of neurofibromatosis, which is a group of disorders characterized by the growth of tumors in the nervous system. The other two recognized forms of neurofibromatosis are neurofibromatosis type 1 and neurofibromatosis type 2. The features of schwannomatosis can be very similar to those of neurofibromatosis type 2. However, schwannomatosis almost never includes inner ear tumors called vestibular schwannomas, which are a hallmark of neurofibromatosis type 2. Additional features of the other forms of neurofibromatosis, including the development of other types of tumors, are much less common in schwannomatosis.

MalaCards based summary: Neurilemmomatosis, also known as schwannomatosis, is related to schwannomatosis 1 and full schwannomatosis. An important gene associated with Neurilemmomatosis is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1), and among its related pathways/superpathways are Assembly of the pre-replicative complex and Chromatin organization. The drugs Tanezumab and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include small intestine, spinal cord and lymph node, and related phenotypes are Increased Nanog expression and Increased proliferation

GARD: ¹⁹ Schwannomatosis is a rare form of neurofibromatosis that is primarily characterized by multiple schwannomas (benign tumors of the nervous system) in the absence of bilateral (affecting both sides) vestibular schwannomas. Signs and symptoms of the condition vary based on the size, location and number of schwannomas but may include pain; numbness; tingling; and/or weakness in the fingers and toes. Inherited forms of the disorder account for only 15 percent of all cases. In some of these families, Schwannomatosis is caused by changes in the SMARCB1 or LZTR1 genes; in other cases, the exact underlying cause is unknown. When inherited, the condition is passed down in an autosomal dominant manner with highly variable expressivity and reduced penetrance.

Wikipedia ⁷⁵ Neurofibromatosis type 3: Neurofibromatosis type 3 (also known as "Neurofibromatosis mixed type") resembles von Recklinghausen's... more...

Schwannomatosis: Schwannomatosis is an extremely rare genetic disorder closely related to the more-common disorder... more...

GeneReviews: NBK487394

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Related Diseases for Neurilemmomatosis

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

(show top 50) (show all 268)

#	Related Disease	Score	Top Affiliating Genes
1	schwannomatosis 1	32.7	SMARCB1 NF2
2	full schwannomatosis	32.1	SMARCB1 NF2 LZTR1 COQ6
3	neurofibromatosis, type i	31.3	SPRED1 NF2 NF1
4	bap1 tumor predisposition syndrome	31.0	SMARCE1 SMARCB1 SMARCA4 NF2 NF1 LZTR1
5	neurofibromatosis	30.9	SPRED1 SMARCB1 NF2 NF1 LZTR1
6	inherited cancer-predisposing syndrome	30.9	SMARCE1 SMARCB1 SMARCA4 NF2 NF1 LZTR1
7	malignant peripheral nerve sheath tumor	30.8	SOX10 NF2 NF1
8	neurilemmoma	30.7	SOX10 SMARCB1 NF2 NF1 LZTR1
9	neurofibromatosis, type ii	30.6	SMARCB1 NF2 NF1 LZTR1 DCAF1
10	acoustic neuroma	30.6	SMARCB1 NF2 NF1 LZTR1 DCAF1
11	rasopathy	30.5	SPRED1 NF2 NF1 LZTR1 CUL3
12	neurofibromatosis-noonan syndrome	30.4	SPRED1 NF1 LZTR1
13	neurilemmoma of the fifth cranial nerve	30.3	NF2 NF1
14	neuroma	30.3	SMARCB1 NF2 NF1 LZTR1
15	neurofibroma	30.3	SPRED1 SOX10 NF2 NF1
16	plexiform schwannoma	30.2	SOX10 SMARCB1 NF2 NF1 LZTR1
17	legius syndrome	30.2	SPRED1 NF1
18	epithelioid malignant peripheral nerve sheath tumor	30.1	SOX10 SMARCB1 SMARCA4 NF1
19	atypical teratoid rhabdoid tumor	30.1	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
20	plexiform neurofibroma	29.9	SPRED1 SOX10 SMARCB1 NF2 NF1 LZTR1
21	noonan syndrome 1	29.8	SPRED1 SOX10 NF1 LZTR1 CUL3 ARID1B
22	renal cell carcinoma, papillary, 1	29.8	SMARCB1 NF2 CUL3
23	meningioma, familial	29.7	SPRED1 SOX10 SMARCE1 SMARCB1 SMARCA4 NF2
24	rhabdoid cancer	29.7	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
25	coffin-siris syndrome 1	29.7	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
26	schwannomatosis 2	11.6
27	mosaic nf2-related schwannomatosis	11.0
28	neurofibromatosis, type iii, mixed central and peripheral	11.0
29	neurofibromatosis/schwannomatosis	11.0
30	mosaic schwannomatosis	11.0
31	epithelioid neurofibroma	10.4	NF2 NF1
32	optic nerve astrocytoma	10.4	SMARCB1 NF1
33	pineal region meningioma	10.4	SMARCB1 NF2
34	sphenoorbital meningioma	10.4	SMARCE1 NF2
35	cerebellopontine angle meningioma	10.4	SMARCE1 NF2
36	cavernous sinus meningioma	10.4	SMARCE1 NF2
37	microcystic meningioma	10.4	SMARCE1 NF2
38	intraventricular meningioma	10.4	SMARCE1 NF2
39	small intestine leiomyoma	10.4	NF2 NF1
40	trigeminal nerve neoplasm	10.4	NF2 NF1
41	cerebellopontine angle tumor	10.4	SMARCB1 NF2
42	angiomatous meningioma	10.4	SMARCE1 NF2
43	spinal cord astrocytoma	10.4	NF2 NF1
44	childhood meningioma	10.4	SMARCE1 SMARCB1 NF2
45	cerebral falx meningioma	10.4	SMARCE1 SMARCB1 NF2
46	parasagittal meningioma	10.4	SMARCE1 SMARCB1 NF2
47	posterior pituitary gland neoplasm	10.4	SMARCB1 SMARCA4 NF2
48	epidural spinal canal neoplasm	10.4	NF2 NF1
49	cerebral convexity meningioma	10.4	SMARCE1 SMARCB1 NF2
50	chordoid meningioma	10.4	SMARCB1 NF2

Graphical network of the top 20 diseases related to Neurilemmomatosis:

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Symptoms & Phenotypes for Neurilemmomatosis

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

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased Nanog expression	GR00371-A-1	9.32	ARID1A BANF1 SMARCA4 SMARCB1 SMARCC1 SMARCE1
2	Increased Nanog expression	GR00371-A-2	9.32	SMARCE1
3	Increased Nanog expression	GR00371-A-3	9.32	ARID1A
4	Increased Nanog expression	GR00371-A-5	9.32	ARID1A BANF1
5	Increased proliferation	GR00094-A	8.96	NF2 SMARCB1

MGI Mouse Phenotypes related to Neurilemmomatosis:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10.18	ARID1A ARID1B COQ6 CUL3 NF1 NF2
2	growth/size/body region	MP:0005378	10.13	ARID1A ARID1B COQ6 CUL3 LZTR1 NF1
3	neoplasm	MP:0002006	9.98	ARID1A NF1 NF2 SMARCA2 SMARCA4 SMARCB1
4	muscle	MP:0005369	9.97	ARID1A ARID1B CUL3 LZTR1 NF1 SMARCA2
5	embryo	MP:0005380	9.96	ARID1A COQ6 CUL3 NF1 NF2 SMARCA4
6	cellular	MP:0005384	9.93	ARID1A COQ6 CUL3 DCAF1 LZTR1 NF1
7	mortality/aging	MP:0010768	9.89	ARID1A ARID1B CABIN1 COQ6 CUL3 DCAF1
8	pigmentation	MP:0001186	9.85	NF1 NF2 SMARCA4 SMARCC1 SOX10
9	integument	MP:0010771	9.28	ARID1B COQ6 NF1 NF2 SMARCA2 SMARCA4

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Drugs & Therapeutics for Neurilemmomatosis

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

(show all 6)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Tanezumab

Investigational

Phase 2

880266-57-9

2

Analgesics

Phase 2

3

Immunoglobulins

Phase 2

4

Antibodies

Phase 2

5

Mitogens

Phase 2

6

Lysine

Approved, Nutraceutical

56-87-1

5962

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Immunotherapy Targeting Neurofibromatosis or Schwannomatosis	Recruiting	NCT04085159	Phase 1, Phase 2
2	A Phase 2 Randomized, Double-blind, Placebo-Controlled Study of the Analgesic Efficacy and Safety of the Subcutaneous Administration of the Anti-NGF Antibody Tanezumab in Subjects With Moderate to Severe Pain Due to Schwannomatosis	Active, not recruiting	NCT04163419	Phase 2	Tanezumab;Placebo
3	Relationship Between Psychosocial Factors, Health Literacy, Quality of Life and Satisfaction With Medical Visits in Adults With Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis	Completed	NCT02435628
4	Resiliency Training for Patients With Neurofibromatosis Via Videoconferencing With Skype	Completed	NCT02298270
5	Neurofibromatosis (NF) Registry Portal Funded by Children's Tumor Foundation	Recruiting	NCT01885767
6	Resiliency Training for Adults With Neurofibromatosis Via Live Videoconferencing	Recruiting	NCT03406208
7	Tazemetostat Expanded Access Program for Adults With Solid Tumors	Temporarily not available	NCT03874455		Tazemetostat

Search NIH Clinical Center for Neurilemmomatosis

Cochrane evidence based reviews: schwannomatosis

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Genetic Tests for Neurilemmomatosis

Genetic tests related to Neurilemmomatosis:

#	Genetic test	Affiliating Genes
1	Schwannomatosis ²⁸	LZTR1 SMARCB1

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Anatomical Context for Neurilemmomatosis

Organs/tissues related to Neurilemmomatosis:

MalaCards : Small Intestine, Spinal Cord, Lymph Node, Brain, Tongue, Prostate, Colon

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Publications for Neurilemmomatosis

Articles related to Neurilemmomatosis:

(show top 50) (show all 581)

#	Title	Authors	PMID	Year
1	Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. ⁵³ ⁶² ²⁴ ⁵	Hadfield KD...Evans DG	18285426	2008
2	The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis. ⁶² ²⁴ ⁵	Kehrer-Sawatzki H...Cooper DN	27921248	2017
3	Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. ⁶² ²⁴ ⁵	Piotrowski A...Messiaen LM	24362817	2014
4	Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis. ⁶² ²⁴ ⁵	Smith MJ...Evans DG	22434358	2012
5	Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri. ⁶² ²⁴ ⁵	van den Munckhof P...Hulsebos TJ	22038540	2012
6	Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas. ⁶² ²⁴ ⁵	Christiaans I...Hulsebos TJ	20930055	2011
7	Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation. ⁶² ²⁴ ⁵	Bacci C...Papi L	19582488	2010
8	Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. ⁶² ²⁴ ⁵	Swensen JJ...Williams MS	19124645	2009
9	Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. ⁶² ²⁴ ⁵	Sestini R...Papi L	18072270	2008
10	Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. ⁵³ ⁶² ⁵	Jacoby LB...MacCollin M	9399891	1997
11	Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling. ⁶² ⁵	Motta M...Tartaglia M	30481304	2019
12	Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis. ⁶² ⁵	Louvrier C...Parfait B	29409008	2018
13	Pain correlates with germline mutation in schwannomatosis. ⁶² ⁵	Jordan JT...Plotkin SR	29384852	2018
14	Germline mutation of INI1/SMARCB1 in familial schwannomatosis. ⁶² ⁵	Hulsebos TJ...Wesseling P	17357086	2007
15	Neurofibromatosis 2 and neurilemmomatosis gene are identical. ⁶² ⁵	Honda M...Niimura M	7798645	1995
16	Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients. ⁵	Li X...Wang X	31219622	2019
17	Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. ⁵	Umeki I...Aoki Y	30368668	2019
18	Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. ⁵	Steklov M...Sablina AA	30442762	2018
19	LZTR1 is a regulator of RAS ubiquitination and signaling. ⁵	Bigenzahn JW...Superti-Furga G	30442766	2018
20	Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager. ⁶² ²⁴	Gripp KW...Messiaen L	28295212	2017
21	Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 2 and Related Disorders. ⁶² ²⁴	Evans DGR...Tabori U	28620005	2017
22	Creation of an international registry to support discovery in schwannomatosis. ⁶² ²⁴	Ostrow KL...Belzberg AJ	27759912	2017
23	Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis. ⁶² ²⁴	Smith MJ...Evans DG	27856782	2017
24	Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis. ⁶² ²⁴	Farschtschi S...Baumer P	27472264	2016
25	Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells. ⁶² ²⁴	Hulsebos TJ...Flucke U	26799435	2016
26	Clinical features of spinal schwannomas in 65 patients with schwannomatosis compared with 831 with solitary schwannomas and 102 with neurofibromatosis Type 2: a retrospective study at a single institution. ⁶² ²⁴	Li P...Liu P	26407091	2016
27	Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis. ⁶² ²⁴	Gossai N...Moertel CL	26364901	2015
28	Expanding the mutational spectrum of LZTR1 in schwannomatosis. ⁶² ²⁴	Paganini I...Papi L	25335493	2015
29	Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. ⁵	Yamamoto GL...Bertola DR	25795793	2015
30	RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. ⁵	Xiong HY...Frey BJ	25525159	2015
31	Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. ⁶² ²⁴	Smith MJ...Evans DG	25480913	2015
32	Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants. ⁶² ²⁴	Hutter S...Mautner VF	25008767	2014
33	SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors. ⁶² ²⁴	Smith MJ...Evans DG	24933152	2014
34	Relationship between whole-body tumor burden, clinical phenotype, and quality of life in patients with neurofibromatosis. ⁶² ²⁴	Merker VL...Plotkin SR	24664633	2014
35	Schwannomatosis: the overlooked neurofibromatosis? ⁶² ²⁴	Koontz NA...Mosier KM	23701098	2013
36	Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria. ⁶² ²⁴	Plotkin SR...Giovannini M	23401320	2013
37	Malignant peripheral nerve sheath tumours in inherited disease. ⁶² ²⁴	Evans DG...Birch JM	23036231	2012
38	RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas. ⁶² ²⁴	Melean G...Hernandez-Chico C	22752724	2012
39	Quantitative assessment of whole-body tumor burden in adult patients with neurofibromatosis. ⁶² ²⁴	Plotkin SR...Mautner VF	22558206	2012
40	Clinical features of schwannomatosis: a retrospective analysis of 87 patients. ⁶² ²⁴	Merker VL...Plotkin SR	22927469	2012
41	Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with "neuroblastoma-like" schwannomatosis and a novel germline SMARCB1 mutation. ⁶² ²⁴	Carter JM...Folpe AL	22082606	2012
42	Schwannomatosis, sporadic schwannomatosis, and familial schwannomatosis: a surgical series with long-term follow-up. Clinical article. ⁶² ²⁴	Gonzalvo A...Biggs MT	20932094	2011
43	SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis. ⁶² ²⁴	Rousseau G...Olschwang S	21255467	2011
44	Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. ⁶² ²⁴	Eaton KW...Biegel JA	21108436	2011
45	Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas. ⁶² ²⁴	Hadfield KD...Evans DG	20729918	2010
46	SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis. ⁶² ²⁴	Hulsebos TJ...Delatycki MB	19912265	2010
47	Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis. ⁶² ²⁴	Boyd C...Plotkin SR	18647326	2008
48	Diagnostic criteria for schwannomatosis. ⁶² ²⁴	MacCollin M...Roach ES	15955931	2005
49	Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas. ⁶² ²⁴	Antinheimo J...Jaaskelainen J	10636128	2000
50	Phenotypic variability associated with 14 splice-site mutations in the NF2 gene. ⁵	Kluwe L...Mautner VF	9605590	1998

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Genes for Neurilemmomatosis

Genes related to Neurilemmomatosis (3 elite genes):

(show all 34)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SMARCB1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1	Protein Coding	533.82	Pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	17357086 18072270 18285426 (more) 19124645 19582488 20930055 22038540 22434358
2	NF2	NF2, Moesin-Ezrin-Radixin Like (MERLIN) Tumor Suppressor	Protein Coding	426.42	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	7798645 9399891 9605590 (more) 25525159 18285426 16078050 12975302
3	LZTR1	Leucine Zipper Like Transcription Regulator 1	Protein Coding	133.99	Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	24362817 25795793 27921248 (more) 29384852 29409008 30368668 30442762 30442766 30481304 31219622
4	NF1	Neurofibromin 1	Protein Coding	8.13	DISEASES inferred ¹⁴
5	SMARCE1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily E, Member 1	Protein Coding	6.94	DISEASES inferred ¹⁴
6	SMARCA4	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4	Protein Coding	5.99	DISEASES inferred ¹⁴
7	COQ6	Coenzyme Q6, Monooxygenase	Protein Coding	5.78	DISEASES inferred ¹⁴
8	SMARCC1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin Subfamily C Member 1	Protein Coding	5.74	DISEASES inferred ¹⁴
9	SMARCC2	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin Subfamily C Member 2	Protein Coding	5.74	DISEASES inferred ¹⁴
10	ARID1B	AT-Rich Interaction Domain 1B	Protein Coding	5.69	DISEASES inferred ¹⁴
11	CUL3	Cullin 3	Protein Coding	5.69	DISEASES inferred ¹⁴
12	SPRED1	Sprouty Related EVH1 Domain Containing 1	Protein Coding	5.51	DISEASES inferred ¹⁴
13	DCAF1	DDB1 And CUL4 Associated Factor 1	Protein Coding	5.45	DISEASES inferred ¹⁴
14	ARID1A	AT-Rich Interaction Domain 1A	Protein Coding	5.37	DISEASES inferred ¹⁴
15	CABIN1	Calcineurin Binding Protein 1	Protein Coding	5.37	DISEASES inferred ¹⁴
16	BANF1	BAF Nuclear Assembly Factor 1	Protein Coding	5.36	DISEASES inferred ¹⁴
17	PHF10	PHD Finger Protein 10	Protein Coding	5.32	DISEASES inferred ¹⁴
18	SMARCA2	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2	Protein Coding	5.18	DISEASES inferred ¹⁴
19	KLHL2	Kelch Like Family Member 2	Protein Coding	5.14	DISEASES inferred ¹⁴
20	SOX10	SRY-Box Transcription Factor 10	Protein Coding	5.14	DISEASES inferred ¹⁴
21	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	5.09	DISEASES inferred ¹⁴
22	MRAS	Muscle RAS Oncogene Homolog	Protein Coding	5.08	DISEASES inferred ¹⁴
23	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	5.06	DISEASES inferred ¹⁴
24	SUFU	SUFU Negative Regulator Of Hedgehog Signaling	Protein Coding	5.06	DISEASES inferred ¹⁴
25	SS18	SS18 Subunit Of BAF Chromatin Remodeling Complex	Protein Coding	5.01	DISEASES inferred ¹⁴
26	ARID2	AT-Rich Interaction Domain 2	Protein Coding	5.01	DISEASES inferred ¹⁴
27	SCARF2	Scavenger Receptor Class F Member 2	Protein Coding	4.96	DISEASES inferred ¹⁴
28	NPIPB11	Nuclear Pore Complex Interacting Protein Family Member B11	Protein Coding	4.96	DISEASES inferred ¹⁴
29	DPF2	Double PHD Fingers 2	Protein Coding	4.94	DISEASES inferred ¹⁴
30	PBRM1	Polybromo 1	Protein Coding	4.94	DISEASES inferred ¹⁴
31	RIT1	Ras Like Without CAAX 1	Protein Coding	4.93	DISEASES inferred ¹⁴
32	SSX2	SSX Family Member 2	Protein Coding	4.92	DISEASES inferred ¹⁴
33	SH3PXD2A	SH3 And PX Domains 2A	Protein Coding	4.84	DISEASES inferred ¹⁴
34	MSN	Moesin	Protein Coding	4.75	DISEASES inferred ¹⁴

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Variations for Neurilemmomatosis

ClinVar genetic disease variations for Neurilemmomatosis:

⁵ (show top 50) (show all 69)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SMARCB1	NM_003073.5(SMARCB1):c.34C>T (p.Gln12Ter)	SNV	Pathogenic	8026	rs74315513	GRCh37: 22:24129390-24129390 GRCh38: 22:23787203-23787203
2	SMARCB1	NM_003073.5(SMARCB1):c.203_216delinsTACC (p.His68fs)	INDEL	Pathogenic	8028	rs587776679	GRCh37: 22:24134052-24134065 GRCh38: 22:23791865-23791878
3	SMARCB1	NM_003073.5(SMARCB1):c.629-361_795+2103dup	DUP	Pathogenic	8030		GRCh37: 22:24158592-24158593 GRCh38: 22:23816405-23816406
4	SMARCB1	NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val)	SNV	Pathogenic	8031	rs267607072	GRCh37: 22:24129448-24129448 GRCh38: 22:23787261-23787261
5	SMARCB1	NM_003073.5(SMARCB1):c.143C>T (p.Pro48Leu)	SNV	Pathogenic	30202	rs387906811	GRCh37: 22:24133992-24133992 GRCh38: 22:23791805-23791805
6	NF2	NM_000268.4(NF2):c.363+1G>A	SNV	Pathogenic	635372	rs1601583839	GRCh37: 22:30035202-30035202 GRCh38: 22:29639213-29639213
7	SMARCB1	NM_003073.5(SMARCB1):c.152G>A (p.Trp51Ter)	SNV	Pathogenic	410703	rs1060503016	GRCh37: 22:24134001-24134001 GRCh38: 22:23791814-23791814
8	SMARCB1	NM_003073.5(SMARCB1):c.969_976del (p.Lys324fs)	DEL	Pathogenic	410704	rs1060503017	GRCh37: 22:24167585-24167592 GRCh38: 22:23825398-23825405
9	SMARCB1	NM_003073.5(SMARCB1):c.500+883T>G	SNV	Pathogenic	1192514		GRCh37: 22:24144151-24144151 GRCh38: 22:23801964-23801964
10	SMARCB1	NM_003073.5(SMARCB1):c.500+887G>A	SNV	Pathogenic	1192515		GRCh37: 22:24144155-24144155 GRCh38: 22:23801968-23801968
11	SMARCB1	NM_003073.5(SMARCB1):c.233-2_237del	DEL	Pathogenic	8029		GRCh37: 22:24135742-24135748 GRCh38: 22:23793555-23793561
12	SMARCB1	NM_003073.5(SMARCB1):c.364G>T (p.Glu122Ter)	SNV	Pathogenic	1076272		GRCh37: 22:24143132-24143132 GRCh38: 22:23800945-23800945
13	NF2	NM_000268.4(NF2):c.205_211del (p.Lys69fs)	DEL	Pathogenic	3300	rs587776565	GRCh37: 22:30032830-30032836 GRCh38: 22:29636841-29636847
14	NF2	NM_000268.4(NF2):c.125_126insG (p.Gly43fs)	INSERT	Pathogenic	3299	rs587776564	GRCh37: 22:30032750-30032751 GRCh38: 22:29636761-29636762
15	NF2	NC_000022.11:g.(29668447_29671826)_(29681601_?)del	DEL	Pathogenic	3298		GRCh37: GRCh38: 22:29668447-29681601
16	SMARCB1	NM_003073.5(SMARCB1):c.747dup (p.Thr250fs)	DUP	Pathogenic	1686219		GRCh37: 22:24159071-24159072 GRCh38: 22:23816884-23816885
17	SMARCB1	NM_003073.5(SMARCB1):c.307_346del (p.Asn103fs)	DEL	Pathogenic	1686218		GRCh37: 22:24135818-24135857 GRCh38: 22:23793631-23793670
18	LZTR1	NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)	SNV	Likely Pathogenic	289969	rs189150283	GRCh37: 22:21346593-21346593 GRCh38: 22:20992304-20992304
19	SMARCB1	NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp)	SNV	Likely Pathogenic	825898	rs1601405064	GRCh37: 22:24145549-24145549 GRCh38: 22:23803362-23803362
20	LZTR1	NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)	SNV	Likely Pathogenic	101038	rs587777180	GRCh37: 22:21348256-21348256 GRCh38: 22:20993967-20993967
21	LZTR1	NM_006767.4(LZTR1):c.372_385del (p.Val125fs)	DEL	Likely Pathogenic	917601	rs1924439391	GRCh37: 22:21341844-21341857 GRCh38: 22:20987555-20987568
22	SMARCB1	NM_003073.5(SMARCB1):c.-83C>T	SNV	Uncertain Significance	903043	rs1374186002	GRCh37: 22:24129274-24129274 GRCh38: 22:23787087-23787087
23	SMARCB1	NM_003073.5(SMARCB1):c.1118+8T>C	SNV	Uncertain Significance	902212	rs2030796889	GRCh37: 22:24175898-24175898 GRCh38: 22:23833711-23833711
24	SMARCB1	NM_003073.5(SMARCB1):c.*307A>G	SNV	Uncertain Significance	900606	rs2030874248	GRCh37: 22:24176674-24176674 GRCh38: 22:23834487-23834487
25	SMARCB1	NM_003073.5(SMARCB1):c.633G>A (p.Lys211=)	SNV	Uncertain Significance	900547	rs1930218305	GRCh37: 22:24158961-24158961 GRCh38: 22:23816774-23816774
26	SMARCB1	NM_003073.5(SMARCB1):c.*197A>C	SNV	Uncertain Significance	899472	rs1306414841	GRCh37: 22:24176564-24176564 GRCh38: 22:23834377-23834377
27	SMARCB1	NM_003073.5(SMARCB1):c.*159C>G	SNV	Uncertain Significance	899471	rs1022324232	GRCh37: 22:24176526-24176526 GRCh38: 22:23834339-23834339
28	SMARCB1	NM_003073.5(SMARCB1):c.*113C>T	SNV	Uncertain Significance	340920	rs886057286	GRCh37: 22:24176480-24176480 GRCh38: 22:23834293-23834293
29	NF2	NM_000268.4(NF2):c.1232G>A (p.Arg411His)	SNV	Uncertain Significance	527695	rs201214090	GRCh37: 22:30069367-30069367 GRCh38: 22:29673378-29673378
30	NF2	NM_000268.4(NF2):c.215T>C (p.Val72Ala)	SNV	Uncertain Significance	569354	rs1260510937	GRCh37: 22:30032840-30032840 GRCh38: 22:29636851-29636851
31	NF2	NM_000268.4(NF2):c.4G>T (p.Ala2Ser)	SNV	Uncertain Significance	638486	rs1601515682	GRCh37: 22:29999991-29999991 GRCh38: 22:29604002-29604002
32	SMARCB1	NM_003073.5(SMARCB1):c.*100C>G	SNV	Uncertain Significance	903097	rs1363655817	GRCh37: 22:24176467-24176467 GRCh38: 22:23834280-23834280
33	SMARCB1	NM_003073.5(SMARCB1):c.790A>C (p.Ile264Leu)	SNV	Uncertain Significance	410701	rs887245809	GRCh37: 22:24159118-24159118 GRCh38: 22:23816931-23816931
34	SMARCB1	NM_003073.5(SMARCB1):c.713C>T (p.Ala238Val)	SNV	Uncertain Significance	410708	rs1060503019	GRCh37: 22:24159041-24159041 GRCh38: 22:23816854-23816854
35	SMARCB1	NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr)	SNV	Uncertain Significance	340912	rs762962010	GRCh37: 22:24145588-24145588 GRCh38: 22:23803401-23803401
36	SMARCB1	NM_003073.5(SMARCB1):c.723C>T (p.Ile241=)	SNV	Uncertain Significance	340914	rs752910574	GRCh37: 22:24159051-24159051 GRCh38: 22:23816864-23816864
37	SMARCB1	NM_003073.5(SMARCB1):c.987-4G>C	SNV	Uncertain Significance	340915	rs745773662	GRCh37: 22:24175755-24175755 GRCh38: 22:23833568-23833568
38	SMARCB1	NM_003073.5(SMARCB1):c.888G>T (p.Lys296Asn)	SNV	Uncertain Significance	198489	rs769322487	GRCh37: 22:24167504-24167504 GRCh38: 22:23825317-23825317
39	NF2	NM_000268.4(NF2):c.1619A>G (p.Asn540Ser)	SNV	Uncertain Significance	565467	rs774824164	GRCh37: 22:30077472-30077472 GRCh38: 22:29681483-29681483
40	NF2	NM_000268.4(NF2):c.1701C>G (p.Asp567Glu)	SNV	Uncertain Significance	457904	rs1049732514	GRCh37: 22:30077554-30077554 GRCh38: 22:29681565-29681565
41	SMARCB1	NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu)	SNV	Uncertain Significance	410706	rs779769475	GRCh37: 22:24134007-24134007 GRCh38: 22:23791820-23791820
42	SMARCB1	NM_003073.5(SMARCB1):c.309C>T (p.Asn103=)	SNV	Uncertain Significance	532975	rs145695677	GRCh37: 22:24135822-24135822 GRCh38: 22:23793635-23793635
43	SMARCB1 and overlap with 1 gene(s)	NM_003073.4(SMARCB1):c.987-?_*338dup510	DUP	Uncertain Significance	239486		GRCh37: 22:24175759-24176705 GRCh38: 22:23833572-23834518
44	overlap with 2 genes	NM_003073.4(SMARCB1):c.-207-?_*338dup1703	DUP	Uncertain Significance	239480		GRCh37: 22:24129150-24176705 GRCh38: 22:23786963-23834518
45	SMARCB1	NM_003073.5(SMARCB1):c.12_14dup	DUP	Uncertain Significance	340916	rs779825754	GRCh37: 22:24176376-24176377 GRCh38: 22:23834189-23834190
46	SMARCB1	NM_003073.5(SMARCB1):c.-149C>T	SNV	Uncertain Significance	340906	rs886057282	GRCh37: 22:24129208-24129208 GRCh38: 22:23787021-23787021
47	SMARCB1	NM_003073.5(SMARCB1):c.-148T>C	SNV	Uncertain Significance	340907	rs886057283	GRCh37: 22:24129209-24129209 GRCh38: 22:23787022-23787022
48	SMARCB1	NM_003073.5(SMARCB1):c.*279G>A	SNV	Uncertain Significance	340921	rs886057287	GRCh37: 22:24176646-24176646 GRCh38: 22:23834459-23834459
49	SMARCB1	NM_003073.5(SMARCB1):c.-107A>G	SNV	Uncertain Significance	340910	rs886057284	GRCh37: 22:24129250-24129250 GRCh38: 22:23787063-23787063
50	SMARCB1	NM_003073.5(SMARCB1):c.-157G>A	SNV	Uncertain Significance	340905	rs886057281	GRCh37: 22:24129200-24129200 GRCh38: 22:23787013-23787013

Sources

Expression for Neurilemmomatosis

Search GEO for disease gene expression data for Neurilemmomatosis.

Sources

Pathways for Neurilemmomatosis

Pathways related to Neurilemmomatosis according to GeneCards Suite gene sharing:

(show all 13)

#	Super pathways	Score	Top Affiliating Genes
1	Assembly of the pre-replicative complex ⁶⁶ Show member pathways DNA Replication ⁶⁶ DNA Replication Pre-Initiation ⁶⁶ RUNX1 regulates transcription of genes involved in differentiation of HSCs ⁶⁶ Transcriptional regulation by RUNX1 ⁶⁶	12.99	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
2	Chromatin organization ⁶⁶ Show member pathways Chromatin modifying enzymes ⁶⁶ HATs acetylate histones ⁶⁶	12.87	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
3	Chromatin Regulation / Acetylation ³	12.32	ARID1A CABIN1 SMARCA2 SMARCA4 SMARCB1 SMARCC1
4	AMPK Enzyme Complex Pathway ⁶⁴ Show member pathways Chromatin Remodeling ⁶⁴	12.09	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
5	Thermogenesis ⁷⁴ Show member pathways mitochondrial L-carnitine shuttle ⁶¹	11.91	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
6	BRCA1 Pathway ⁶⁴ Show member pathways Fanconi's Anaemia Pathway ⁶⁴	11.72	SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
7	Glucocorticoid receptor regulatory network ⁶¹	11.59	SMARCC2 SMARCC1 SMARCA4
8	Pathways affected in adenoid cystic carcinoma ⁷⁴	11.48	SMARCE1 SMARCA2 ARID1A
9	Transcription Ligand-dependent activation of the ESR1/SP pathway ²² Show member pathways Development Ligand-dependent activation of the ESR1/AP-1 pathway ²²	11.4	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
10	Regulation of Androgen receptor activity ⁶¹	11.36	SMARCE1 SMARCC1 SMARCA2
11	Tumor suppressor activity of SMARCB1 ⁷⁴ Show member pathways GLI proteins bind promoters of Hh responsive genes to promote transcription ⁶⁶	11.23	ARID1A ARID1B SMARCA4 SMARCB1 SMARCC1 SMARCC2
12	Validated nuclear estrogen receptor beta network ⁶¹	10.83	SMARCE1 SMARCB1 SMARCA4
13	RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known ⁶⁶	10.81	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2

Sources

GO Terms for Neurilemmomatosis

Cellular components related to Neurilemmomatosis according to GeneCards Suite gene sharing:

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleoplasm	GO:0005654	10.7	ARID1A ARID1B BANF1 CABIN1 CUL3 DCAF1
2	chromatin	GO:0000785	10.52	ARID1A ARID1B BANF1 PHF10 SMARCA2 SMARCA4
3	npBAF complex	GO:0071564	10.28	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
4	kinetochore	GO:0000776	10.27	PHF10 SMARCA4 SMARCB1 SMARCC1 SMARCC2 SMARCE1
5	nuclear matrix	GO:0016363	10.23	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 PHF10
6	RSC-type complex	GO:0016586	10.21	PHF10 SMARCA4 SMARCB1 SMARCC1 SMARCC2 SMARCE1
7	brahma complex	GO:0035060	10.21	ARID1A ARID1B SMARCA2 SMARCB1 SMARCC1 SMARCC2
8	SWI/SNF complex	GO:0016514	10.21	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
9	nBAF complex	GO:0071565	10.06	ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC1
10	Cul3-RING ubiquitin ligase complex	GO:0031463	10.02	LZTR1 KLHL2 CUL3
11	GBAF complex	GO:0140288	9.99	SMARCC1 SMARCA4 SMARCA2
12	SWI/SNF superfamily-type complex	GO:0070603	9.8	SMARCB1 SMARCA4 SMARCA2 ARID1B ARID1A
13	chromosomal region	GO:0098687	9.54	SMARCC2 SMARCC1
14	DNA packaging complex	GO:0044815	9.5	ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC1
15	bBAF complex	GO:0140092	9.47	ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC2

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

(show all 25)

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of transcription by RNA polymerase II	GO:0006357	10.57	SOX10 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4
2	positive regulation of DNA-templated transcription	GO:0045893	10.46	ARID1A ARID1B SMARCA2 SMARCA4 SMARCC1 SMARCC2
3	chromatin remodeling	GO:0006338	10.46	ARID1A ARID1B PHF10 SMARCA2 SMARCA4 SMARCB1
4	nervous system development	GO:0007399	10.45	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
5	regulation of mitotic metaphase/anaphase transition	GO:0030071	10.39	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
6	positive regulation of T cell differentiation	GO:0045582	10.36	ARID1A ARID1B PHF10 SMARCA2 SMARCA4 SMARCB1
7	positive regulation of stem cell population maintenance	GO:1902459	10.34	ARID1A PHF10 SMARCA2 SMARCA4 SMARCB1 SMARCC1
8	positive regulation of myoblast differentiation	GO:0045663	10.32	ARID1A ARID1B PHF10 SMARCA2 SMARCA4 SMARCB1
9	positive regulation of cell differentiation	GO:0045597	10.32	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
10	chromatin organization	GO:0006325	10.27	ARID1A ARID1B BANF1 CABIN1 DCAF1 SMARCA2
11	nucleosome disassembly	GO:0006337	10.26	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 ARID1A
12	regulation of nucleotide-excision repair	GO:2000819	10.21	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
13	positive regulation of double-strand break repair	GO:2000781	10.11	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
14	negative regulation of cell differentiation	GO:0045596	10.09	SMARCC1 SMARCA4 SMARCA2
15	negative regulation of MAPK cascade	GO:0043409	10.08	SPRED1 NF2 NF1
16	negative regulation of Schwann cell proliferation	GO:0010626	10.01	NF1 NF2 SOX10
17	RNA polymerase I preinitiation complex assembly	GO:0001188	9.92	SMARCB1 SMARCA4
18	positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	GO:1901838	9.92	SMARCB1 SMARCA4
19	regulation of G1/S transition of mitotic cell cycle	GO:2000045	9.91	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
20	positive regulation of glucose mediated signaling pathway	GO:1902661	9.88	SMARCB1 SMARCA4
21	Schwann cell proliferation	GO:0014010	9.87	NF2 NF1
22	positive regulation of response to stimulus	GO:0048584	9.61	SMARCC2 SMARCC1
23	positive regulation of DNA metabolic process	GO:0051054	9.59	SMARCC2 SMARCC1
24	regulation of multicellular organismal development	GO:2000026	9.58	SMARCC2 SMARCC1
25	regulation of G0 to G1 transition	GO:0070316	9.58	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	protein N-terminus binding	GO:0047485	9.92	SMARCE1 SMARCC1 SMARCA4 BANF1
2	histone binding	GO:0042393	9.81	PHF10 SMARCA2 SMARCA4 SMARCC1 SMARCC2
3	nucleosome binding	GO:0031491	9.73	CABIN1 ARID1B ARID1A
4	Tat protein binding	GO:0030957	9.71	SMARCB1 SMARCA4
5	RNA polymerase I core promoter sequence-specific DNA binding	GO:0001164	9.67	SMARCB1 SMARCA4
6	nucleosomal DNA binding	GO:0031492	9.65	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4
7	transcription coactivator activity	GO:0003713	9.53	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2

Sources

Sources for Neurilemmomatosis

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

NF3 MCID: NRL002 MIFTS: 52	Neurilemmomatosis (NF3) Categories: Cancer diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Drugs Expand all tables

Neurilemmomatosis (NF3)

Aliases & Classifications for Neurilemmomatosis

MalaCards integrated aliases for Neurilemmomatosis:

Characteristics:

GeneReviews:

Classifications:

External Ids:

Summaries for Neurilemmomatosis

Related Diseases for Neurilemmomatosis

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

Graphical network of the top 20 diseases related to Neurilemmomatosis:

Symptoms & Phenotypes for Neurilemmomatosis

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

MGI Mouse Phenotypes related to Neurilemmomatosis:

Drugs & Therapeutics for Neurilemmomatosis

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

Interventional clinical trials:

Cochrane evidence based reviews: schwannomatosis

Genetic Tests for Neurilemmomatosis

Genetic tests related to Neurilemmomatosis:

Anatomical Context for Neurilemmomatosis

Organs/tissues related to Neurilemmomatosis:

Publications for Neurilemmomatosis

Articles related to Neurilemmomatosis:

Genes for Neurilemmomatosis

Genes related to Neurilemmomatosis (3 elite genes):

Variations for Neurilemmomatosis

ClinVar genetic disease variations for Neurilemmomatosis:

Expression for Neurilemmomatosis

Pathways for Neurilemmomatosis

Pathways related to Neurilemmomatosis according to GeneCards Suite gene sharing:

GO Terms for Neurilemmomatosis

Cellular components related to Neurilemmomatosis according to GeneCards Suite gene sharing:

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

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

Sources for Neurilemmomatosis