Flnb-Related Disorders disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Flnb-Related Disorders

MalaCards integrated aliases for Flnb-Related Disorders:

Name: Flnb-Related Disorders ²⁴ ³⁷ ⁶

Flnb-Related Disorder ⁶

Characteristics:

GeneReviews:

²⁴

Penetrance Germline flnb pathogenic variants are fully penetrant but show variable expressivity, leading to the range of phenotypes described in this genereview...

External Ids:

KEGG ³⁷ H00461

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Summaries for Flnb-Related Disorders

MalaCards based summary : Flnb-Related Disorders, is also known as flnb-related disorder. An important gene associated with Flnb-Related Disorders is FLNB (Filamin B), and among its related pathways/superpathways are MAPK signaling pathway and Focal adhesion.

GeneReviews: NBK2534

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Related Diseases for Flnb-Related Disorders

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Symptoms & Phenotypes for Flnb-Related Disorders

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Drugs & Therapeutics for Flnb-Related Disorders

Search Clinical Trials , NIH Clinical Center for Flnb-Related Disorders

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Genetic Tests for Flnb-Related Disorders

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Anatomical Context for Flnb-Related Disorders

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Publications for Flnb-Related Disorders

Articles related to Flnb-Related Disorders:

#	Title	Authors	Year
1	FLNB-Related Disorders ( 20301736 )	Pagon R.A....Stephens K.	1993

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Genes for Flnb-Related Disorders

Genes related to Flnb-Related Disorders (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FLNB	Filamin B	Protein Coding	417.94	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)

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Variations for Flnb-Related Disorders

ClinVar genetic disease variations for Flnb-Related Disorders:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	FLNB	NM_001457.3(FLNB): c.4835G> A (p.Gly1612Asp)	single nucleotide variant	Pathogenic	rs80356505	GRCh37	Chromosome 3, 58121869: 58121869
2	FLNB	NM_001457.3(FLNB): c.4835G> A (p.Gly1612Asp)	single nucleotide variant	Pathogenic	rs80356505	GRCh38	Chromosome 3, 58136142: 58136142
3	FLNB	NM_001457.3(FLNB): c.502G> A (p.Gly168Ser)	single nucleotide variant	Pathogenic	rs80356504	GRCh37	Chromosome 3, 58062982: 58062982
4	FLNB	NM_001457.3(FLNB): c.502G> A (p.Gly168Ser)	single nucleotide variant	Pathogenic	rs80356504	GRCh38	Chromosome 3, 58077255: 58077255
5	FLNB	NM_001457.3(FLNB): c.4859C> A (p.Thr1620Lys)	single nucleotide variant	not provided	rs753946814	GRCh37	Chromosome 3, 58121893: 58121893
6	FLNB	NM_001457.3(FLNB): c.4859C> A (p.Thr1620Lys)	single nucleotide variant	not provided	rs753946814	GRCh38	Chromosome 3, 58136166: 58136166

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Expression for Flnb-Related Disorders

Search GEO for disease gene expression data for Flnb-Related Disorders.

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Pathways for Flnb-Related Disorders

Pathways related to Flnb-Related Disorders according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	MAPK signaling pathway	hsa04010
2	Focal adhesion	hsa04510

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GO Terms for Flnb-Related Disorders

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Sources for Flnb-Related Disorders

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 ExPASy

¹⁸ FDA Approved Drugs

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 HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

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 NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

MCID: FLN002 MIFTS: 3	Flnb-Related Disorders
Genes Variations Publications Pathways Download Expand all tables