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

NF3 MCID: NRL002 MIFTS: 52	Neurilemmomatosis (NF3) Categories: Cancer diseases, Fetal diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs Expand all tables

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Aliases & Classifications for Neurilemmomatosis

MalaCards integrated aliases for Neurilemmomatosis:

Name: Neurilemmomatosis ¹² ⁴³ ⁵⁸ ¹⁵

Schwannomatosis ¹² ⁷³ ²⁵ ²⁰ ⁴³ ⁵⁸ ²⁹ ⁵⁴ ⁶ ⁴⁴ ³⁹ ⁷⁰

Neurofibromatosis Type 3 ²⁰ ⁴³ ⁵⁸

Neurilemmomatosis Congenital Cutaneous ²⁰ ⁶

Neurinomatosis ⁴³ ⁷⁰

Nf3 ²⁰ ⁵⁸

Neurilemmomatosis, Congenital Cutaneous ⁴³

Congenital Cutaneous Neurilemmomatosis ²⁰

Multiple Neurilemmomas ⁴³

Multiple Schwannomas ⁴³

Neurofibromatosis 3 ⁷⁰

Schwannomatosis 1 ⁷⁰

Characteristics:

Orphanet epidemiological data:

⁵⁸

schwannomatosis
Inheritance: Autosomal dominant; Age of onset: Adult,Elderly; Age of death: Not yet documented;

GeneReviews:

²⁵

Penetrance The data on penetrance are limited, though it is less than 100% for both smarcb1- [swensen et al 2009, plotkin et al 2013] and lztr1-related schwannomatosis. 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 Fetal diseases Cancer diseases
Anatomical: Neuronal diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Phakomatoses, not elsewhere classified

Neurofibromatosis (nonmalignant)

Orphanet: ⁵⁸

Rare neurological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:3204

ICD9CM ³⁴ 237.73

MeSH ⁴⁴ C536641

NCIt ⁵⁰ C6557

SNOMED-CT ⁶⁷ 781641005

ICD10 ³² Q85.03

MESH via Orphanet ⁴⁵ C536641

ICD10 via Orphanet ³³ Q85.0

UMLS via Orphanet ⁷¹ C0917817 C1335929 C2931480

Orphanet ⁵⁸ ORPHA93921

UMLS ⁷⁰ C0334614 C0917817 C1335929 more

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Summaries for Neurilemmomatosis

MedlinePlus Genetics : ⁴³ 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 meningioma, familial. 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 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Tanezumab and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, small intestine and heart, and related phenotypes are Increased Nanog expression and Increased Nanog expression

GARD : ²⁰ 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 ( mutations ) 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. Treatment is based on the signs and symptoms present in each person but may include medications and/or surgery.

Wikipedia : ⁷³ 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 179)

#	Related Disease	Score	Top Affiliating Genes
1	schwannomatosis 1	32.7	SMARCB1 NF2 LZTR1
2	meningioma, familial	31.7	SPRED1 SMARCE1 SMARCB1 NF2 NF1 DCAF1
3	neurofibromatosis, type i	31.7	SPRED1 NF2 NF1
4	acoustic neuroma	31.1	NF2 NF1 LZTR1
5	neurofibromatosis	30.8	SPRED1 NF2 NF1
6	neurilemmoma	30.8	SMARCB1 NF2 NF1 LZTR1
7	secretory meningioma	30.7	SMARCE1 SMARCB1 NF2
8	rasopathy	30.5	SPRED1 NF2 NF1 LZTR1
9	plexiform schwannoma	30.5	SMARCB1 NF2 NF1
10	monosomy 22	30.4	SMARCB1 NF2
11	neuroma	30.4	SMARCB1 NF2 NF1
12	neurilemmoma of the fifth cranial nerve	30.3	NF2 NF1 LZTR1
13	plexiform neurofibroma	30.2	SPRED1 NF2 NF1
14	epithelioid malignant peripheral nerve sheath tumor	30.2	SMARCB1 NF1
15	coffin-siris syndrome 3	30.2	SMARCE1 SMARCB1 ARID2
16	atypical teratoid rhabdoid tumor	30.2	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 NF2
17	coffin-siris syndrome 1	30.0	SMARCE1 SMARCC2 SMARCB1 SMARCA4 BANF1 ARID2
18	rhabdoid cancer	29.4	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 PHF10
19	schwannomatosis 2	11.6
20	neurofibromatosis, type iii, mixed central and peripheral	11.1
21	optic nerve astrocytoma	10.5	SMARCB1 NF1
22	epithelioid neurofibroma	10.5	NF2 NF1
23	cellular neurofibroma	10.5	SMARCB1 NF1
24	mn1 c-terminal truncation syndrome	10.5	SMARCE1 NF2
25	cerebral falx meningioma	10.4	NF2 NF1
26	olfactory groove meningioma	10.4	NF2 LZTR1
27	anterior cranial fossa meningioma	10.4	NF2 LZTR1
28	spinal canal intradural extramedullary neoplasm	10.4	NF2 DCAF1
29	small intestine leiomyoma	10.4	NF2 NF1
30	melanotic neurilemmoma	10.4	SMARCB1 NF2
31	polyp of corpus uteri	10.4	NF2 NF1
32	angiomatous meningioma	10.4	SMARCE1 NF2
33	trigeminal nerve neoplasm	10.4	NF2 NF1 LZTR1
34	schwannoma of twelfth cranial nerve	10.4	SMARCB1 NF2 NF1
35	adult malignant schwannoma	10.4	NF2 NF1
36	hypoglossal nerve disease	10.4	SMARCB1 NF2 NF1
37	cellular schwannoma	10.4	SMARCB1 NF2 NF1
38	orbital cancer	10.4	NF2 NF1
39	corpus callosum lipoma	10.4	SMARCB1 NF2 NF1
40	cerebral hemisphere lipoma	10.4	SMARCB1 NF2 NF1
41	meningioma, radiation-induced	10.4	SMARCE1 SMARCB1 NF2
42	intraorbital meningioma	10.4	NF2 LZTR1 DCAF1
43	skull base cancer	10.4	SMARCE1 NF2
44	clear cell meningioma	10.4	SMARCE1 SMARCB1 NF2
45	juvenile type testicular granulosa cell tumor	10.4	SMARCB1 SMARCA4
46	testicular granulosa cell tumor	10.4	SMARCB1 SMARCA4
47	skull base meningioma	10.4	SMARCE1 NF2
48	transitional meningioma	10.4	SMARCE1 NF2
49	rhabdoid meningioma	10.4	SMARCB1 NF2
50	meningothelial meningioma	10.4	SMARCE1 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:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased Nanog expression	GR00371-A-1	9.65	ARID1A BANF1 SMARCA4 SMARCB1 SMARCC1 SMARCE1
2	Increased Nanog expression	GR00371-A-2	9.65	SMARCE1
3	Increased Nanog expression	GR00371-A-3	9.65	ARID1A
4	Increased Nanog expression	GR00371-A-5	9.65	ARID1A BANF1
5	Increased proliferation	GR00094-A	8.62	NF2 SMARCB1

MGI Mouse Phenotypes related to Neurilemmomatosis:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	immune system	MP:0005387	9.93	ARID1A ARID1B ARID2 CABIN1 NF1 NF2
2	embryo	MP:0005380	9.91	ARID1A COQ6 NF1 NF2 PBRM1 SMARCA4
3	craniofacial	MP:0005382	9.87	ARID1A ARID1B LZTR1 NF1 NF2 SMARCA4
4	mortality/aging	MP:0010768	9.86	ARID1A ARID1B ARID2 CABIN1 COQ6 DCAF1
5	muscle	MP:0005369	9.17	ARID1A ARID1B ARID2 LZTR1 NF1 SMARCA4

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Drugs & Therapeutics for Neurilemmomatosis

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

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Tanezumab

Investigational

Phase 2

880266-57-9

Immunoglobulins

Phase 2

Mitogens

Phase 2

Analgesics

Phase 2

Antibodies

Phase 2

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	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	Recruiting	NCT04163419	Phase 2	Tanezumab;Placebo
2	Immunotherapy Targeting Neurofibromatosis or Schwannomatosis	Recruiting	NCT04085159	Phase 1, Phase 2
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

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 ²⁹	LZTR1 SMARCB1

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Anatomical Context for Neurilemmomatosis

MalaCards organs/tissues related to Neurilemmomatosis:

⁴⁰

Spinal Cord, Small Intestine, Heart, Lymph Node, Tongue, Spleen, Brain

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Publications for Neurilemmomatosis

Articles related to Neurilemmomatosis:

(show top 50) (show all 408)

#	Title	Authors	PMID	Year
1	Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. ⁶¹ ⁶ ⁵⁴ ²⁵	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. ⁶ ²⁵ ⁶¹	Kehrer-Sawatzki H...Cooper DN	27921248	2017
3	Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. ²⁵ ⁶¹ ⁶	Piotrowski A...Messiaen LM	24362817	2014
4	Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri. ⁶¹ ²⁵ ⁶	van den Munckhof P...Hulsebos TJ	22038540	2012
5	Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas. ⁶¹ ²⁵ ⁶	Christiaans I...Hulsebos TJ	20930055	2011
6	Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation. ⁶¹ ⁶ ²⁵	Bacci C...Papi L	19582488	2010
7	Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. ²⁵ ⁶¹ ⁶	Swensen JJ...Williams MS	19124645	2009
8	Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. ⁶¹ ²⁵ ⁶	Sestini R...Papi L	18072270	2008
9	Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. ⁶ ⁶¹ ⁵⁴	Jacoby LB...MacCollin M	9399891	1997
10	Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling. ⁶¹ ⁶	Motta M...Tartaglia M	30481304	2019
11	Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis. ⁶¹ ⁶	Louvrier C...Parfait B	29409008	2018
12	Pain correlates with germline mutation in schwannomatosis. ⁶ ⁶¹	Jordan JT...Plotkin SR	29384852	2018
13	Germline mutation of INI1/SMARCB1 in familial schwannomatosis. ⁶¹ ⁶	Hulsebos TJ...Wesseling P	17357086	2007
14	Neurofibromatosis 2 and neurilemmomatosis gene are identical. ⁶ ⁶¹	Honda M...Niimura M	7798645	1995
15	Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients. ⁶	Li X...Wang X	31219622	2019
16	Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. ⁶	Umeki I...Aoki Y	30368668	2019
17	Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. ⁶	Steklov M...Sablina AA	30442762	2018
18	LZTR1 is a regulator of RAS ubiquitination and signaling. ⁶	Bigenzahn JW...Superti-Furga G	30442766	2018
19	Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager. ⁶¹ ²⁵	Gripp KW...Messiaen L	28295212	2017
20	Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 2 and Related Disorders. ⁶¹ ²⁵	Evans DGR...Tabori U	28620005	2017
21	Creation of an international registry to support discovery in schwannomatosis. ²⁵ ⁶¹	Ostrow KL...Belzberg AJ	27759912	2017
22	Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis. ⁶¹ ²⁵	Smith MJ...Evans DG	27856782	2017
23	Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis. ⁶¹ ²⁵	Farschtschi S...Baumer P	27472264	2016
24	Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells. ²⁵ ⁶¹	Hulsebos TJ...Flucke U	26799435	2016
25	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. ⁶¹ ²⁵	Li P...Liu P	26407091	2016
26	Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis. ²⁵ ⁶¹	Gossai N...Moertel CL	26364901	2015
27	Expanding the mutational spectrum of LZTR1 in schwannomatosis. ⁶¹ ²⁵	Paganini I...Papi L	25335493	2015
28	Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. ⁶	Yamamoto GL...Bertola DR	25795793	2015
29	Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. ²⁵ ⁶¹	Smith MJ...Evans DG	25480913	2015
30	SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors. ²⁵ ⁶¹	Smith MJ...Evans DG	24933152	2014
31	Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants. ⁶¹ ²⁵	Hutter S...Mautner VF	25008767	2014
32	Relationship between whole-body tumor burden, clinical phenotype, and quality of life in patients with neurofibromatosis. ⁶¹ ²⁵	Merker VL...Plotkin SR	24664633	2014
33	Schwannomatosis: the overlooked neurofibromatosis? ²⁵ ⁶¹	Koontz NA...Mosier KM	23701098	2013
34	Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria. ²⁵ ⁶¹	Plotkin SR...Giovannini M	23401320	2013
35	Malignant peripheral nerve sheath tumours in inherited disease. ⁶¹ ²⁵	Evans DG...Birch JM	23036231	2012
36	RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas. ⁶¹ ²⁵	Melean G...Hernandez-Chico C	22752724	2012
37	Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis. ²⁵ ⁶¹	Smith MJ...Evans DG	22434358	2012
38	Quantitative assessment of whole-body tumor burden in adult patients with neurofibromatosis. ²⁵ ⁶¹	Plotkin SR...Mautner VF	22558206	2012
39	Clinical features of schwannomatosis: a retrospective analysis of 87 patients. ⁶¹ ²⁵	Merker VL...Plotkin SR	22927469	2012
40	Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with "neuroblastoma-like" schwannomatosis and a novel germline SMARCB1 mutation. ²⁵ ⁶¹	Carter JM...Folpe AL	22082606	2012
41	Schwannomatosis, sporadic schwannomatosis, and familial schwannomatosis: a surgical series with long-term follow-up. Clinical article. ⁶¹ ²⁵	Gonzalvo A...Biggs MT	20932094	2011
42	SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis. ²⁵ ⁶¹	Rousseau G...Olschwang S	21255467	2011
43	Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. ²⁵ ⁶¹	Eaton KW...Biegel JA	21108436	2011
44	Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas. ²⁵ ⁶¹	Hadfield KD...Evans DG	20729918	2010
45	SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis. ²⁵ ⁶¹	Hulsebos TJ...Delatycki MB	19912265	2010
46	Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis. ²⁵ ⁶¹	Boyd C...Plotkin SR	18647326	2008
47	Diagnostic criteria for schwannomatosis. ²⁵ ⁶¹	MacCollin M...Roach ES	15955931	2005
48	Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas. ⁶¹ ²⁵	Antinheimo J...Jaaskelainen J	10636128	2000
49	The integrated landscape of driver genomic alterations in glioblastoma. ²⁵	Frattini V...Iavarone A	23917401	2013
50	SNF5 reexpression in malignant rhabdoid tumors regulates transcription of target genes by recruitment of SWI/SNF complexes and RNAPII to the transcription start site of their promoters. ²⁵	Kuwahara Y...Weissman BE	23364536	2013

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Genes for Neurilemmomatosis

Genes related to Neurilemmomatosis (4 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	883.91	Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵	17357086 23401320
2	LZTR1	Leucine Zipper Like Transcription Regulator 1	Protein Coding	558.89	Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ Susceptibility factor ⁵⁸ DISEASES inferred ¹⁵	24362817
3	NF2	Neurofibromin 2	Protein Coding	451.57	Pathogenic ⁶ Candidate gene tested ⁵⁸ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	7798645 23401320 18285426 (more) 16078050 12975302 9399891
4	COQ6	Coenzyme Q6, Monooxygenase	Protein Coding	30.89	Susceptibility factor ⁵⁸ DISEASES inferred ¹⁵	24763291
5	NF1	Neurofibromin 1	Protein Coding	8.14	DISEASES inferred ¹⁵
6	SMARCE1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily E, Member 1	Protein Coding	7.07	DISEASES inferred ¹⁵
7	SMARCA4	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4	Protein Coding	6.24	DISEASES inferred ¹⁵
8	CABIN1	Calcineurin Binding Protein 1	Protein Coding	6.06	DISEASES inferred ¹⁵
9	SMARCC2	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin Subfamily C Member 2	Protein Coding	5.99	DISEASES inferred ¹⁵
10	DCAF1	DDB1 And CUL4 Associated Factor 1	Protein Coding	5.97	DISEASES inferred ¹⁵
11	SMARCC1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin Subfamily C Member 1	Protein Coding	5.84	DISEASES inferred ¹⁵
12	ARID1B	AT-Rich Interaction Domain 1B	Protein Coding	5.77	DISEASES inferred ¹⁵
13	ARID1A	AT-Rich Interaction Domain 1A	Protein Coding	5.72	DISEASES inferred ¹⁵
14	PHF10	PHD Finger Protein 10	Protein Coding	5.69	DISEASES inferred ¹⁵
15	SPRED1	Sprouty Related EVH1 Domain Containing 1	Protein Coding	5.5	DISEASES inferred ¹⁵
16	PBRM1	Polybromo 1	Protein Coding	5.48	DISEASES inferred ¹⁵
17	BANF1	BAF Nuclear Assembly Factor 1	Protein Coding	5.43	DISEASES inferred ¹⁵
18	ALPK2	Alpha Kinase 2	Protein Coding	5.42	DISEASES inferred ¹⁵
19	ARID2	AT-Rich Interaction Domain 2	Protein Coding	5.41	DISEASES inferred ¹⁵
20	DPF3	Double PHD Fingers 3	Protein Coding	5.41	DISEASES inferred ¹⁵
21	GPATCH4	G-Patch Domain Containing 4	Protein Coding	5.3	DISEASES inferred ¹⁵
22	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	5.3	DISEASES inferred ¹⁵
23	SMARCA2	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2	Protein Coding	5.29	DISEASES inferred ¹⁵
24	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	5.28	DISEASES inferred ¹⁵
25	BRD7	Bromodomain Containing 7	Protein Coding	5.25	DISEASES inferred ¹⁵
26	SOX10	SRY-Box Transcription Factor 10	Protein Coding	5.19	DISEASES inferred ¹⁵
27	SUFU	SUFU Negative Regulator Of Hedgehog Signaling	Protein Coding	5.12	DISEASES inferred ¹⁵
28	CUL3	Cullin 3	Protein Coding	5.09	DISEASES inferred ¹⁵
29	DPF1	Double PHD Fingers 1	Protein Coding	5.09	DISEASES inferred ¹⁵
30	REX1BD	Required For Excision 1-B Domain Containing	Protein Coding	5.08	DISEASES inferred ¹⁵
31	ACTL6A	Actin Like 6A	Protein Coding	5.05	DISEASES inferred ¹⁵
32	RASA1	RAS P21 Protein Activator 1	Protein Coding	5.04	DISEASES inferred ¹⁵
33	MRAS	Muscle RAS Oncogene Homolog	Protein Coding	4.98	DISEASES inferred ¹⁵
34	MYEF2	Myelin Expression Factor 2	Protein Coding	4.96	DISEASES inferred ¹⁵

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Variations for Neurilemmomatosis

ClinVar genetic disease variations for Neurilemmomatosis:

⁶ (show top 50) (show all 83)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	NF2	NC_000022.11:g.(29668447_29671826)_(29681601_?)del	Deletion	Pathogenic	3298		GRCh37: GRCh38: 22:29668447-29681601
2	NF2	NM_000268.4(NF2):c.125_126insG (p.Gly43fs)	Insertion	Pathogenic	3299	rs587776564	GRCh37: 22:30032750-30032751 GRCh38: 22:29636761-29636762
3	NF2	NM_000268.4(NF2):c.205_211del (p.Lys69fs)	Deletion	Pathogenic	3300	rs587776565	GRCh37: 22:30032830-30032836 GRCh38: 22:29636841-29636847
4	SMARCB1	NM_003073.5(SMARCB1):c.34C>T (p.Gln12Ter)	SNV	Pathogenic	8026	rs74315513	GRCh37: 22:24129390-24129390 GRCh38: 22:23787203-23787203
5	SMARCB1	NM_003073.5(SMARCB1):c.203_216delinsTACC (p.His68fs)	Indel	Pathogenic	8028	rs587776679	GRCh37: 22:24134052-24134065 GRCh38: 22:23791865-23791878
6	SMARCB1	SMARCB1, 7-BP DEL, NT233	Deletion	Pathogenic	8029		GRCh37: GRCh38:
7	SMARCB1	NM_003073.5(SMARCB1):c.629-361_795+2103dup	Duplication	Pathogenic	8030		GRCh37: 22:24158592-24158593 GRCh38: 22:23816405-23816406
8	SMARCB1	NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val)	SNV	Pathogenic	8031	rs267607072	GRCh37: 22:24129448-24129448 GRCh38: 22:23787261-23787261
9	SMARCB1	NM_003073.5(SMARCB1):c.143C>T (p.Pro48Leu)	SNV	Pathogenic	30202	rs387906811	GRCh37: 22:24133992-24133992 GRCh38: 22:23791805-23791805
10	LZTR1	NM_006767.4(LZTR1):c.264-13G>A	SNV	Pathogenic	101034	rs587777176	GRCh37: 22:21340117-21340117 GRCh38: 22:20985828-20985828
11	LZTR1	NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu)	SNV	Pathogenic	101035	rs587777177	GRCh37: 22:21341837-21341837 GRCh38: 22:20987548-20987548
12	LZTR1	NM_006767.4(LZTR1):c.2348_2351del (p.Thr783fs)	Deletion	Pathogenic	101037	rs587777179	GRCh37: 22:21351196-21351199 GRCh38: 22:20996907-20996910
13	LZTR1	NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)	SNV	Pathogenic	101038	rs587777180	GRCh37: 22:21348256-21348256 GRCh38: 22:20993967-20993967
14	LZTR1	NM_006767.4(LZTR1):c.27del (p.Gln10fs)	Deletion	Pathogenic	143931	rs587777613	GRCh37: 22:21336681-21336681 GRCh38: 22:20982392-20982392
15	SMARCB1	NM_003073.5(SMARCB1):c.152G>A (p.Trp51Ter)	SNV	Pathogenic	410703	rs1060503016	GRCh37: 22:24134001-24134001 GRCh38: 22:23791814-23791814
16	SMARCB1	NM_003073.5(SMARCB1):c.969_976del (p.Lys324fs)	Deletion	Pathogenic	410704	rs1060503017	GRCh37: 22:24167585-24167592 GRCh38: 22:23825398-23825405
17	LZTR1	NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)	SNV	Pathogenic	209089	rs797045165	GRCh37: 22:21345975-21345975 GRCh38: 22:20991686-20991686
18	LZTR1	NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)	SNV	Pathogenic	289969	rs189150283	GRCh37: 22:21346593-21346593 GRCh38: 22:20992304-20992304
19	SMARCB1	NM_003073.5(SMARCB1):c.*82C>T	SNV	Pathogenic	239481	rs878854600	GRCh37: 22:24176449-24176449 GRCh38: 22:23834262-23834262
20	LZTR1	NM_006767.4(LZTR1):c.320+1del	Deletion	Pathogenic	634827	rs1569153870	GRCh37: 22:21340186-21340186 GRCh38: 22:20985897-20985897
21	LZTR1	NM_006767.4(LZTR1):c.486G>A (p.Trp162Ter)	SNV	Pathogenic	634828	rs1569154722	GRCh37: 22:21342384-21342384 GRCh38: 22:20988095-20988095
22	LZTR1	NM_006767.4(LZTR1):c.401-2_401-1del	Deletion	Pathogenic	930614		GRCh37: 22:21342297-21342298 GRCh38: 22:20988008-20988009
23	LZTR1	NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter)	SNV	Pathogenic	488877	rs149850248	GRCh37: 22:21346527-21346527 GRCh38: 22:20992238-20992238
24	LZTR1	NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)	SNV	Likely pathogenic	101038	rs587777180	GRCh37: 22:21348256-21348256 GRCh38: 22:20993967-20993967
25	SMARCB1	NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp)	SNV	Likely pathogenic	825898	rs1601405064	GRCh37: 22:24145549-24145549 GRCh38: 22:23803362-23803362
26	LZTR1	NM_006767.4(LZTR1):c.1889G>A (p.Arg630Gln)	SNV	Likely pathogenic	561963	rs781776791	GRCh37: 22:21349262-21349262 GRCh38: 22:20994973-20994973
27	LZTR1	NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)	SNV	Likely pathogenic	289969	rs189150283	GRCh37: 22:21346593-21346593 GRCh38: 22:20992304-20992304
28	LZTR1	NM_006767.4(LZTR1):c.1556_1560dup (p.Phe521fs)	Microsatellite	Likely pathogenic	930572		GRCh37: 22:21348493-21348494 GRCh38: 22:20994204-20994205
29	LZTR1	NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)	SNV	Likely pathogenic	209088	rs869320686	GRCh37: 22:21344765-21344765 GRCh38: 22:20990476-20990476
30	LZTR1	NM_006767.4(LZTR1):c.372_385del (p.Val125fs)	Deletion	Likely pathogenic	917601		GRCh37: 22:21341844-21341857 GRCh38: 22:20987555-20987568
31	LZTR1	NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys)	SNV	Likely pathogenic	101036	rs587777178	GRCh37: 22:21350154-21350154 GRCh38: 22:20995865-20995865
32	SMARCB1 and overlap with 1 gene(s)	NM_003073.4(SMARCB1):c.987-?_*338dup510	Duplication	Uncertain significance	239486		GRCh37: 22:24175759-24176705 GRCh38: 22:23833572-23834518
33	overlap with 2 genes	NM_003073.4(SMARCB1):c.-207-?_*338dup1703	Duplication	Uncertain significance	239480		GRCh37: 22:24129150-24176705 GRCh38: 22:23786963-23834518
34	SMARCB1	NM_003073.5(SMARCB1):c.*279G>A	SNV	Uncertain significance	340921	rs886057287	GRCh37: 22:24176646-24176646 GRCh38: 22:23834459-23834459
35	SMARCB1	NM_003073.5(SMARCB1):c.-107A>G	SNV	Uncertain significance	340910	rs886057284	GRCh37: 22:24129250-24129250 GRCh38: 22:23787063-23787063
36	SMARCB1	NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr)	SNV	Uncertain significance	340912	rs762962010	GRCh37: 22:24145588-24145588 GRCh38: 22:23803401-23803401
37	SMARCB1	NM_003073.5(SMARCB1):c.723C>T (p.Ile241=)	SNV	Uncertain significance	340914	rs752910574	GRCh37: 22:24159051-24159051 GRCh38: 22:23816864-23816864
38	SMARCB1	NM_003073.5(SMARCB1):c.*113C>T	SNV	Uncertain significance	340920	rs886057286	GRCh37: 22:24176480-24176480 GRCh38: 22:23834293-23834293
39	SMARCB1	NM_003073.5(SMARCB1):c.12_14dup	Duplication	Uncertain significance	340916	rs779825754	GRCh37: 22:24176376-24176377 GRCh38: 22:23834189-23834190
40	SMARCB1	NM_003073.5(SMARCB1):c.888G>T (p.Lys296Asn)	SNV	Uncertain significance	198489	rs769322487	GRCh37: 22:24167504-24167504 GRCh38: 22:23825317-23825317
41	SMARCB1	NM_003073.5(SMARCB1):c.790A>C (p.Ile264Leu)	SNV	Uncertain significance	410701	rs887245809	GRCh37: 22:24159118-24159118 GRCh38: 22:23816931-23816931
42	SMARCB1	NM_003073.5(SMARCB1):c.-157G>A	SNV	Uncertain significance	340905	rs886057281	GRCh37: 22:24129200-24129200 GRCh38: 22:23787013-23787013
43	SMARCB1	NM_003073.5(SMARCB1):c.-149C>T	SNV	Uncertain significance	340906	rs886057282	GRCh37: 22:24129208-24129208 GRCh38: 22:23787021-23787021
44	SMARCB1	NM_003073.5(SMARCB1):c.-148T>C	SNV	Uncertain significance	340907	rs886057283	GRCh37: 22:24129209-24129209 GRCh38: 22:23787022-23787022
45	SMARCB1	NM_003073.5(SMARCB1):c.987-4G>C	SNV	Uncertain significance	340915	rs745773662	GRCh37: 22:24175755-24175755 GRCh38: 22:23833568-23833568
46	NF2	NM_000268.4(NF2):c.4G>T (p.Ala2Ser)	SNV	Uncertain significance	638486	rs1601515682	GRCh37: 22:29999991-29999991 GRCh38: 22:29604002-29604002
47	SMARCB1	NM_003073.5(SMARCB1):c.309C>T (p.Asn103=)	SNV	Uncertain significance	532975	rs145695677	GRCh37: 22:24135822-24135822 GRCh38: 22:23793635-23793635
48	LZTR1	NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys)	SNV	Uncertain significance	373089	rs747430075	GRCh37: 22:21347167-21347167 GRCh38: 22:20992878-20992878
49	NF2	NM_000268.4(NF2):c.215T>C (p.Val72Ala)	SNV	Uncertain significance	569354	rs1260510937	GRCh37: 22:30032840-30032840 GRCh38: 22:29636851-29636851
50	NF2	NM_000268.4(NF2):c.1232G>A (p.Arg411His)	SNV	Uncertain significance	527695	rs201214090	GRCh37: 22:30069367-30069367 GRCh38: 22:29673378-29673378

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:

#	Super pathways	Score	Top Affiliating Genes
1	Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 ⁶⁵ Show member pathways Activation of anterior HOX genes in hindbrain development during early embryogenesis ⁶⁵ Activation of HOX genes during differentiation ⁶⁵ Alcoholism ³⁶ Amyloid fiber formation ⁶⁵ B-WICH complex positively regulates rRNA expression ⁶⁵ Condensation of Prophase Chromosomes ⁶⁵ DNA methylation ⁶⁵ Epigenetic regulation of gene expression ⁶⁵ ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression ⁶⁵ Formation of the beta-catenin-TCF transactivating complex ⁶⁵ HDACs deacetylate histones ⁶⁵ HDMs demethylate histones ⁶⁵ Negative epigenetic regulation of rRNA expression ⁶⁵ Neutrophil extracellular trap formation ³⁶ NoRC negatively regulates rRNA expression ⁶⁵ Positive epigenetic regulation of rRNA expression ⁶⁵ PRC2 methylates histones and DNA ⁶⁵ RHO GTPases activate PKNs ⁶⁵ RMTs methylate histone arginines ⁶⁵ RNA Polymerase I Chain Elongation ⁶⁵ RNA Polymerase I Promoter Clearance ⁶⁵ RNA Polymerase I Promoter Opening ⁶⁵ RNA Polymerase I Transcription ⁶⁵ RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription ⁶⁵ SIRT1 negatively regulates rRNA Expression ⁶⁵ Systemic lupus erythematosus ³⁶	13.56	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 PBRM1
2	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. ⁶⁵ Show member pathways Complex I biogenesis ⁶⁵ Diabetic cardiomyopathy ³⁶ Electron Transport Chain ¹ Formation of ATP by chemiosmotic coupling ⁶⁵ Non-alcoholic fatty liver disease ³⁶ Oxidative phosphorylation ³⁶ Oxidative phosphorylation ¹ Respiratory electron transport ⁶⁵ The citric acid (TCA) cycle and respiratory electron transport ⁶⁵ Thermogenesis ³⁶	13.14	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 DPF3
3	Chromatin organization ⁶⁵ Show member pathways Chromatin modifying enzymes ⁶⁵ HATs acetylate histones ⁶⁵	12.76	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 PBRM1
4	Chromatin Regulation / Acetylation ⁴	12.11	SMARCC2 SMARCC1 SMARCB1 SMARCA4 CABIN1 ARID2
5	AMPK Enzyme Complex Pathway ⁶³ Show member pathways Chromatin Remodeling ⁶³ mitochondrial L-carnitine shuttle ¹	12.03	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 ARID1A
6	Gastric cancer ³⁶ Show member pathways Breast cancer ³⁶ Hepatocellular carcinoma ³⁶	12.03	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 PHF10
7	BRCA1 Pathway ⁶³ Show member pathways Fanconi's Anaemia Pathway ⁶³	11.59	SMARCC2 SMARCC1 SMARCB1 SMARCA4
8	Glucocorticoid receptor regulatory network ¹	11.52	SMARCC2 SMARCC1 SMARCA4
9	Transcription Ligand-dependent activation of the ESR1/SP pathway ²³ Show member pathways Development Ligand-dependent activation of the ESR1/AP-1 pathway ²³	11.34	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 ARID1B

Sources

GO Terms for Neurilemmomatosis

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

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleus	GO:0005634	10.3	SPRED1 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4
2	nucleoplasm	GO:0005654	10.2	SPRED1 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4
3	chromatin	GO:0000785	10.01	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 PHF10
4	npBAF complex	GO:0071564	9.7	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 PHF10
5	nuclear chromosome	GO:0000228	9.61	SMARCE1 SMARCB1 PBRM1
6	SWI/SNF complex	GO:0016514	9.5	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 ARID1B
7	XY body	GO:0001741	9.46	SMARCC1 SMARCB1
8	brahma complex	GO:0035060	9.43	SMARCB1 ARID1B ARID1A
9	nBAF complex	GO:0071565	9.23	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 DPF3

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

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	nervous system development	GO:0007399	9.97	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 PHF10
2	negative regulation of transcription, DNA-templated	GO:0045892	9.96	SMARCE1 SMARCC2 SMARCA4 PHF10 DPF3
3	positive regulation of transcription, DNA-templated	GO:0045893	9.91	SMARCE1 SMARCC2 SMARCC1 SMARCA4 ARID1B ARID1A
4	chromatin remodeling	GO:0006338	9.86	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 PBRM1
5	negative regulation of cell proliferation	GO:0008285	9.85	SMARCB1 PBRM1 NF2 NF1 ARID2
6	negative regulation of protein kinase activity	GO:0006469	9.7	SPRED1 NF2 NF1
7	nucleosome disassembly	GO:0006337	9.7	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 ARID2
8	ATP-dependent chromatin remodeling	GO:0043044	9.56	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 PBRM1
9	positive regulation by host of viral transcription	GO:0043923	9.55	SMARCB1 SMARCA4
10	DNA integration	GO:0015074	9.54	SMARCB1 BANF1
11	negative regulation of MAPK cascade	GO:0043409	9.54	SPRED1 NF2 NF1
12	chromatin-mediated maintenance of transcription	GO:0048096	9.51	ARID1B ARID1A
13	positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	GO:1901838	9.49	SMARCB1 SMARCA4
14	RNA polymerase I preinitiation complex assembly	GO:0001188	9.48	SMARCB1 SMARCA4
15	positive regulation of glucose mediated signaling pathway	GO:1902661	9.4	SMARCB1 SMARCA4
16	chromatin organization	GO:0006325	9.4	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 PBRM1

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

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA binding	GO:0003677	10.08	SMARCE1 SMARCB1 SMARCA4 PBRM1 BANF1 ARID2
2	transcription coregulator activity	GO:0003712	9.63	SMARCB1 PHF10 DPF3
3	protein N-terminus binding	GO:0047485	9.62	SMARCE1 SMARCC1 SMARCA4 BANF1
4	histone binding	GO:0042393	9.55	SMARCC2 SMARCC1 SMARCA4 PHF10 DPF3
5	transcription coactivator activity	GO:0003713	9.5	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 ARID1B
6	nuclear receptor binding	GO:0016922	9.49	SMARCE1 ARID1A
7	lysine-acetylated histone binding	GO:0070577	9.43	SMARCA4 PBRM1
8	nucleosome binding	GO:0031491	9.43	CABIN1 ARID1B ARID1A
9	Tat protein binding	GO:0030957	9.4	SMARCB1 SMARCA4
10	RNA polymerase I CORE element sequence-specific DNA binding	GO:0001164	9.37	SMARCB1 SMARCA4
11	nucleosomal DNA binding	GO:0031492	9.02	SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4

Sources

Sources for Neurilemmomatosis

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Neurilemmomatosis (NF3)

Aliases & Classifications for Neurilemmomatosis

MalaCards integrated aliases for Neurilemmomatosis:

Characteristics:

Orphanet epidemiological data:

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

MalaCards organs/tissues related to Neurilemmomatosis:

Publications for Neurilemmomatosis

Articles related to Neurilemmomatosis:

Genes for Neurilemmomatosis

Genes related to Neurilemmomatosis (4 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