Schwannomatosis 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SWNTS1 MCID: SCH077 MIFTS: 38	Schwannomatosis 1 (SWNTS1) Categories: Cancer diseases, Genetic diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Schwannomatosis 1

MalaCards integrated aliases for Schwannomatosis 1:

Name: Schwannomatosis 1 ⁵⁶ ⁷³ ²⁹ ⁶ ⁷¹

Schwannomatosis-1, Susceptibility to ⁵⁶ ²⁹

Schwannomatosis, Somatic ⁵⁶ ²⁹

Swnts1 ⁵⁶ ⁷³

Neurilemmomatosis, Congenital Cutaneous ⁵⁶

Congenital Cutaneous Neurilemmomatosis ⁷³

Schwannomatosis, Type 1 ³⁹

Schwannomatosis-1 ⁵⁶

Schwannomatosis ⁷¹

Characteristics:

OMIM:

⁵⁶

Miscellaneous:
variable expressivity
incomplete penetrance
germline and somatic mutations contribute to this disorder

Inheritance:
autosomal dominant

HPO:

³¹

schwannomatosis 1:
Inheritance autosomal dominant inheritance somatic mutation
Onset and clinical course variable expressivity incomplete penetrance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 162091

OMIM Phenotypic Series ⁵⁶ PS162091

MeSH ⁴³ D009442

MedGen ⁴¹ C1335929 C4048809

SNOMED-CT via HPO ⁶⁸ 124975008 126962006 199879009 more

UMLS ⁷¹ C1335929 C4048809

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Summaries for Schwannomatosis 1

OMIM : ⁵⁶ Schwannomatosis, also known as neurilemmomatosis, first reported by Niimura (1973) as neurofibromatosis type 3, is characterized by multiple cutaneous neurilemmomas and spinal schwannomas, without acoustic tumors or other signs of neurofibromatosis I (NF1; 162200) or neurofibromatosis II (NF2; 101000). In neurilemmomas, the tumor consists of Schwann cells. Some patients may develop meningiomas (van den Munckhof et al., 2012). (162091)

MalaCards based summary : Schwannomatosis 1, also known as schwannomatosis-1, susceptibility to, is related to neurilemmomatosis and spinal meningioma. An important gene associated with Schwannomatosis 1 is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1). The drugs Tanezumab and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and skin, and related phenotypes are abnormality of the vertebral column and meningioma

UniProtKB/Swiss-Prot : ⁷³ Schwannomatosis 1: A cancer syndrome in which patients develop multiple non-vestibular schwannomas, benign neoplasms that arise from Schwann cells of the cranial, peripheral, and autonomic nerves.

Wikipedia : ⁷⁴ Schwannomatosis is an extremely rare genetic disorder closely related to the more-common disorder... more...

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Related Diseases for Schwannomatosis 1

Diseases in the Schwannomatosis 1 family:

Schwannomatosis 2

Diseases related to Schwannomatosis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)

#	Related Disease	Score	Top Affiliating Genes
1	neurilemmomatosis	31.5	SMARCB1 NF2
2	spinal meningioma	29.6	SMARCB1 NF2
3	secretory meningioma	29.6	SMARCB1 NF2
4	neurilemmoma	29.5	SMARCB1 NF2
5	meningioma, familial	29.3	SMARCB1 NF2
6	schwannomatosis 2	11.3
7	lymphoplasmacyte-rich meningioma	10.0
8	monosomy 22	9.8	SMARCB1 NF2
9	peripheral nerve schwannoma	9.8	SMARCB1 NF2
10	optic nerve sheath meningioma	9.8	SMARCB1 NF2
11	optic nerve neoplasm	9.8	SMARCB1 NF2
12	spinal canal and spinal cord meningioma	9.8	SMARCB1 NF2
13	rhabdoid meningioma	9.7	SMARCB1 NF2
14	schwannoma of twelfth cranial nerve	9.7	SMARCB1 NF2
15	cranial nerve neoplasm	9.7	SMARCB1 NF2
16	hypoglossal nerve disease	9.7	SMARCB1 NF2
17	corpus callosum lipoma	9.7	SMARCB1 NF2
18	cerebral hemisphere lipoma	9.7	SMARCB1 NF2
19	clear cell meningioma	9.7	SMARCB1 NF2
20	spinal cancer	9.7	SMARCB1 NF2
21	myxopapillary ependymoma	9.7	SMARCB1 NF2
22	cerebrum cancer	9.7	SMARCB1 NF2
23	cerebral ventricle cancer	9.7	SMARCB1 NF2
24	supratentorial cancer	9.7	SMARCB1 NF2
25	meningioma, radiation-induced	9.7	SMARCB1 NF2
26	acoustic neuroma	9.6	SMARCB1 NF2
27	neuroma	9.6	SMARCB1 NF2
28	basal cell nevus syndrome	9.6	SMARCB1 NF2
29	malignant peripheral nerve sheath tumor	9.6	SMARCB1 NF2
30	central nervous system cancer	9.6	SMARCB1 NF2
31	renal cell carcinoma, papillary, 1	9.5	SMARCB1 NF2
32	gastrointestinal stromal tumor	9.5	SMARCB1 NF2
33	sarcoma	9.4	SMARCB1 NF2
34	brain cancer	9.2	SMARCB1 NF2

Graphical network of the top 20 diseases related to Schwannomatosis 1:

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Symptoms & Phenotypes for Schwannomatosis 1

Human phenotypes related to Schwannomatosis 1:

³¹

#	Description	HPO Source Accession
1	abnormality of the vertebral column ³¹	HP:0000925
2	meningioma ³¹	HP:0002858
3	spinal cord tumor ³¹	HP:0010302
4	abnormality of the skin ³¹	HP:0000951
5	schwannoma ³¹	HP:0100008

Symptoms via clinical synopsis from OMIM:

⁵⁶

Skeletal Spine:
schwannomas

Skin Nails Hair Skin:
schwannomas

Neoplasia:
meningiomas
multiple schwannomas

Skeletal Limbs:
schwannomas

Neurologic Central Nervous System:
spinal tumors
absence of vestibular schwannomas at age greater than 18 years
meningiomas

Clinical features from OMIM:

162091

GenomeRNAi Phenotypes related to Schwannomatosis 1 according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00055-A-3	9.56	NF2
2	Decreased viability	GR00221-A-1	9.56	SMARCB1
3	Decreased viability	GR00221-A-2	9.56	SMARCB1
4	Decreased viability	GR00221-A-3	9.56	NF2 SMARCB1
5	Decreased viability	GR00249-S	9.56	NF2 SMARCB1
6	Decreased viability	GR00381-A-1	9.56	SMARCB1
7	Increased proliferation	GR00094-A	8.62	NF2 SMARCB1

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Drugs & Therapeutics for Schwannomatosis 1

Drugs for Schwannomatosis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#	Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1	Tanezumab	Investigational	Phase 2		880266-57-9
2	Immunoglobulins		Phase 2
3	Antibodies		Phase 2
4	Mitogens		Phase 2
5	Analgesics		Phase 2

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	Genetic Evaluation for the Scoliosis Gene(s) in Patients With Neurofibromatosis 1 and Scoliosis	Completed	NCT01776125
6	Neurofibromatosis (NF) Registry Portal Funded by Children's Tumor Foundation	Recruiting	NCT01885767

Search NIH Clinical Center for Schwannomatosis 1

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Genetic Tests for Schwannomatosis 1

Genetic tests related to Schwannomatosis 1:

#	Genetic test	Affiliating Genes
1	Schwannomatosis 1 ²⁹	NF2 SMARCB1
2	Schwannomatosis, Somatic ²⁹
3	Schwannomatosis-1, Susceptibility to ²⁹

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Anatomical Context for Schwannomatosis 1

MalaCards organs/tissues related to Schwannomatosis 1:

⁴⁰

Spinal Cord, Skin

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Publications for Schwannomatosis 1

Articles related to Schwannomatosis 1:

(show all 24)

#	Title	Authors	PMID	Year
1	Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. ⁵⁴ ⁵⁶ ⁶	Hadfield KD...Evans DG	18285426	2008
2	Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. ⁶ ⁵⁶ ⁵⁴	Jacoby LB...MacCollin M	9399891	1997
3	Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri. ⁶ ⁵⁶	van den Munckhof P...Hulsebos TJ	22038540	2012
4	Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas. ⁶ ⁵⁶	Christiaans I...Hulsebos TJ	20930055	2011
5	Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation. ⁶ ⁵⁶	Bacci C...Papi L	19582488	2010
6	Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. ⁶ ⁵⁶	Swensen JJ...Williams MS	19124645	2009
7	Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. ⁶ ⁵⁶	Sestini R...Papi L	18072270	2008
8	Germline mutation of INI1/SMARCB1 in familial schwannomatosis. ⁶ ⁵⁶	Hulsebos TJ...Wesseling P	17357086	2007
9	Neurofibromatosis 2 and neurilemmomatosis gene are identical. ⁶ ⁵⁶	Honda M...Niimura M	7798645	1995
10	Schwannomatosis ⁶	Dhamija R...Babovic-Vuksanovic D	29517885	2018
11	Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2. ⁵⁶	Buckley PG...Dumanski JP	16287142	2005
12	Familial schwannomatosis: exclusion of the NF2 locus as the germline event. ⁵⁶	MacCollin M...Louis DN	12821741	2003
13	Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study. ⁵⁶	Evans DG...Strachan T	9120449	1997
14	Schwannomatosis: a clinical and pathologic study. ⁵⁶	MacCollin M...Short MP	8780094	1996
15	Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. ⁵⁶	Parry DM...Patronas N	7747758	1994
16	Neurofibromatosis 2 in the pediatric age group. ⁵⁶	Mautner VF...Pulst SM	8355853	1993
17	A clinical study of type 2 neurofibromatosis. ⁵⁶	Evans DG...Harris R	1484939	1992
18	Congenital neurilemmomatosis. ⁵⁶	Sasaki T...Nakajima H	1583187	1992
19	A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas. ⁶¹	Caltabiano R...Ruggieri M	28365909	2017
20	Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies. ⁶¹	Ruggieri M...Evans DG	27958595	2016
21	Epithelioid Schwannomas: An Analysis of 58 Cases Including Atypical Variants. ⁶¹	Hart J...Weiss SW	26752543	2016
22	Diagnosis, Management, and New Therapeutic Options in Childhood Neurofibromatosis Type 2 and Related Forms. ⁶¹	Ruggieri M...Evans DG	26706012	2015
23	High-resolution array-CGH profiling of germline and tumor-specific copy number alterations on chromosome 22 in patients affected with schwannomas. ⁵⁴	Diaz de Stahl T...Dumanski JP	16078050	2005
24	Somatic instability of the NF2 gene in schwannomatosis. ⁵⁴	Kaufman DL...MacCollin M	12975302	2003

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Genes for Schwannomatosis 1

Genes related to Schwannomatosis 1 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SMARCB1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1	Protein Coding	1068.1	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ Susceptibility factor ⁵⁶ GeneCards inferred via : Disorders Variants (show sections)	18285426 17357086 18072270 (more) 22038540 29517885 20930055 19582488 19124645
2	NF2	Neurofibromin 2	Protein Coding	1027.19	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Variants (show sections)	7798645 9399891 29517885 (more) 18285426 16078050 12975302 9399891

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Variations for Schwannomatosis 1

ClinVar genetic disease variations for Schwannomatosis 1:

⁶ (show top 50) (show all 59) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SMARCB1	NM_003073.5(SMARCB1):c.969_976del (p.Lys324fs)	deletion	Pathogenic	410704	rs1060503017	22:24167585-24167592	22:23825398-23825405
2	SMARCB1	NM_003073.5(SMARCB1):c.152G>A (p.Trp51Ter)	SNV	Pathogenic	410703	rs1060503016	22:24134001-24134001	22:23791814-23791814
3	NF2	NC_000022.11:g.(29668447_29671826)_(29681601_?)del	deletion	Pathogenic	3298			22:29668447-29681601
4	NF2	NM_000268.4(NF2):c.125_126insG (p.Gly43fs)	insertion	Pathogenic	3299	rs587776564	22:30032750-30032751	22:29636761-29636762
5	NF2	NM_000268.4(NF2):c.205_211del (p.Lys69fs)	deletion	Pathogenic	3300	rs587776565	22:30032830-30032836	22:29636841-29636847
6	SMARCB1	NM_003073.5(SMARCB1):c.34C>T (p.Gln12Ter)	SNV	Pathogenic	8026	rs74315513	22:24129390-24129390	22:23787203-23787203
7	SMARCB1	NM_003073.5(SMARCB1):c.203_216delinsTACC (p.His68fs)	indel	Pathogenic	8028	rs587776679	22:24134052-24134065	22:23791865-23791878
8	SMARCB1	SMARCB1, 7-BP DEL, NT233	deletion	Pathogenic	8029
9	SMARCB1	NM_003073.4(SMARCB1):c.629-361_795+2103dup	duplication	Pathogenic	8030			22:23816409-23819039
10	SMARCB1	NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val)	SNV	Pathogenic	8031	rs267607072	22:24129448-24129448	22:23787261-23787261
11	SMARCB1	NM_003073.5(SMARCB1):c.143C>T (p.Pro48Leu)	SNV	Pathogenic	30202	rs387906811	22:24133992-24133992	22:23791805-23791805
12	SMARCB1	NM_003073.5(SMARCB1):c.*82C>T	SNV	Pathogenic	239481	rs878854600	22:24176449-24176449	22:23834262-23834262
13	SMARCB1	NM_003073.5(SMARCB1):c.723C>T (p.Ile241=)	SNV	Conflicting interpretations of pathogenicity	340914	rs752910574	22:24159051-24159051	22:23816864-23816864
14	SMARCB1	NM_003073.5(SMARCB1):c.-17C>T	SNV	Conflicting interpretations of pathogenicity	340911	rs372777519	22:24129340-24129340	22:23787153-23787153
15	SMARCB1	NM_003073.5(SMARCB1):c.1032C>T (p.Gly344=)	SNV	Conflicting interpretations of pathogenicity	416325	rs149451748	22:24175804-24175804	22:23833617-23833617
16	SMARCB1	NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu)	SNV	Conflicting interpretations of pathogenicity	410706	rs779769475	22:24134007-24134007	22:23791820-23791820
17	SMARCB1	NM_003073.5(SMARCB1):c.309C>T (p.Asn103=)	SNV	Conflicting interpretations of pathogenicity	532975	rs145695677	22:24135822-24135822	22:23793635-23793635
18	NF2	NM_000268.4(NF2):c.1232G>A (p.Arg411His)	SNV	Uncertain significance	527695	rs201214090	22:30069367-30069367	22:29673378-29673378
19	NF2	NM_000268.4(NF2):c.215T>C (p.Val72Ala)	SNV	Uncertain significance	569354	rs1260510937	22:30032840-30032840	22:29636851-29636851
20	NF2	NM_000268.4(NF2):c.1619A>G (p.Asn540Ser)	SNV	Uncertain significance	565467	rs774824164	22:30077472-30077472	22:29681483-29681483
21	NF2	NM_000268.4(NF2):c.4G>T (p.Ala2Ser)	SNV	Uncertain significance	638486		22:29999991-29999991	22:29604002-29604002
22	SMARCB1	NM_003073.5(SMARCB1):c.-83C>T	SNV	Uncertain significance	903043		22:24129274-24129274	22:23787087-23787087
23	SMARCB1	NM_003073.5(SMARCB1):c.633G>A (p.Lys211=)	SNV	Uncertain significance	900547		22:24158961-24158961	22:23816774-23816774
24	SMARCB1	NM_003073.5(SMARCB1):c.790A>C (p.Ile264Leu)	SNV	Uncertain significance	410701	rs887245809	22:24159118-24159118	22:23816931-23816931
25	SMARCB1	NM_003073.5(SMARCB1):c.713C>T (p.Ala238Val)	SNV	Uncertain significance	410708	rs1060503019	22:24159041-24159041	22:23816854-23816854
26	NF2	NM_000268.4(NF2):c.1701C>G (p.Asp567Glu)	SNV	Uncertain significance	457904	rs1049732514	22:30077554-30077554	22:29681565-29681565
27	SMARCB1	NM_003073.5(SMARCB1):c.*100C>G	SNV	Uncertain significance	903097		22:24176467-24176467	22:23834280-23834280
28	SMARCB1	NM_003073.5(SMARCB1):c.*159C>G	SNV	Uncertain significance	899471		22:24176526-24176526	22:23834339-23834339
29	SMARCB1	NM_003073.5(SMARCB1):c.*197A>C	SNV	Uncertain significance	899472		22:24176564-24176564	22:23834377-23834377
30	SMARCB1	NM_003073.5(SMARCB1):c.*307A>G	SNV	Uncertain significance	900606		22:24176674-24176674	22:23834487-23834487
31	SMARCB1	NM_003073.5(SMARCB1):c.1118+8T>C	SNV	Uncertain significance	902212		22:24175898-24175898	22:23833711-23833711
32	SMARCB1	NM_003073.5(SMARCB1):c.888G>T (p.Lys296Asn)	SNV	Uncertain significance	198489	rs769322487	22:24167504-24167504	22:23825317-23825317
33	SMARCB1	NM_003073.4(SMARCB1):c.-207-?_*338dup1703	duplication	Uncertain significance	239480		22:24129150-24176705	22:23786963-23834518
34	SMARCB1	NM_003073.4(SMARCB1):c.987-?_*338dup510	duplication	Uncertain significance	239486		22:24175759-24176705	22:23833572-23834518
35	SMARCB1	NM_003073.5(SMARCB1):c.987-4G>C	SNV	Uncertain significance	340915	rs745773662	22:24175755-24175755	22:23833568-23833568
36	SMARCB1	NM_003073.5(SMARCB1):c.*279G>A	SNV	Uncertain significance	340921	rs886057287	22:24176646-24176646	22:23834459-23834459
37	SMARCB1	NM_003073.5(SMARCB1):c.-107A>G	SNV	Uncertain significance	340910	rs886057284	22:24129250-24129250	22:23787063-23787063
38	SMARCB1	NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr)	SNV	Uncertain significance	340912	rs762962010	22:24145588-24145588	22:23803401-23803401
39	SMARCB1	NM_003073.5(SMARCB1):c.12_14dup	duplication	Uncertain significance	340916	rs779825754	22:24176376-24176377	22:23834189-23834190
40	SMARCB1	NM_003073.5(SMARCB1):c.*113C>T	SNV	Uncertain significance	340920	rs886057286	22:24176480-24176480	22:23834293-23834293
41	SMARCB1	NM_003073.5(SMARCB1):c.-149C>T	SNV	Uncertain significance	340906	rs886057282	22:24129208-24129208	22:23787021-23787021
42	SMARCB1	NM_003073.5(SMARCB1):c.-157G>A	SNV	Uncertain significance	340905	rs886057281	22:24129200-24129200	22:23787013-23787013
43	SMARCB1	NM_003073.5(SMARCB1):c.-148T>C	SNV	Uncertain significance	340907	rs886057283	22:24129209-24129209	22:23787022-23787022
44	SMARCB1	NM_003073.5(SMARCB1):c.*17C>T	SNV	Likely benign	340918	rs372348692	22:24176384-24176384	22:23834197-23834197
45	SMARCB1	NM_003073.5(SMARCB1):c.*15C>A	SNV	Likely benign	340917	rs369400289	22:24176382-24176382	22:23834195-23834195
46	SMARCB1	NM_003073.5(SMARCB1):c.696G>A (p.Thr232=)	SNV	Likely benign	416321	rs145934279	22:24159024-24159024	22:23816837-23816837
47	SMARCB1	NM_003073.5(SMARCB1):c.978C>T (p.Tyr326=)	SNV	Benign/Likely benign	388704	rs187488637	22:24167594-24167594	22:23825407-23825407
48	SMARCB1	NM_003073.5(SMARCB1):c.362+7C>T	SNV	Benign/Likely benign	239483	rs34746244	22:24135882-24135882	22:23793695-23793695
49	SMARCB1	NM_003073.5(SMARCB1):c.438A>G (p.Pro146=)	SNV	Benign/Likely benign	239484	rs35105793	22:24143206-24143206	22:23801019-23801019
50	SMARCB1	NM_003073.5(SMARCB1):c.*293C>T	SNV	Benign/Likely benign	340922	rs754865420	22:24176660-24176660	22:23834473-23834473

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Expression for Schwannomatosis 1

Search GEO for disease gene expression data for Schwannomatosis 1.

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Pathways for Schwannomatosis 1

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GO Terms for Schwannomatosis 1

Biological processes related to Schwannomatosis 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of cell proliferation	GO:0008285	8.62	SMARCB1 NF2

Sources

Sources for Schwannomatosis 1

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 GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

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 MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

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 TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Schwannomatosis 1 (SWNTS1)

Aliases & Classifications for Schwannomatosis 1

MalaCards integrated aliases for Schwannomatosis 1:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Schwannomatosis 1

Related Diseases for Schwannomatosis 1

Diseases in the Schwannomatosis 1 family:

Diseases related to Schwannomatosis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Schwannomatosis 1:

Symptoms & Phenotypes for Schwannomatosis 1

Human phenotypes related to Schwannomatosis 1:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

GenomeRNAi Phenotypes related to Schwannomatosis 1 according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Schwannomatosis 1

Drugs for Schwannomatosis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Schwannomatosis 1

Genetic tests related to Schwannomatosis 1:

Anatomical Context for Schwannomatosis 1

MalaCards organs/tissues related to Schwannomatosis 1:

Publications for Schwannomatosis 1

Articles related to Schwannomatosis 1:

Genes for Schwannomatosis 1

Genes related to Schwannomatosis 1 (2 elite genes):

Variations for Schwannomatosis 1

ClinVar genetic disease variations for Schwannomatosis 1:

Expression for Schwannomatosis 1

Pathways for Schwannomatosis 1

GO Terms for Schwannomatosis 1

Biological processes related to Schwannomatosis 1 according to GeneCards Suite gene sharing:

Sources for Schwannomatosis 1