MCID: FLN002
MIFTS: 3

Flnb-Related Disorders

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

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

Related Diseases for Flnb-Related Disorders

Symptoms & Phenotypes for Flnb-Related Disorders

Drugs & Therapeutics for Flnb-Related Disorders

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

Genetic Tests for Flnb-Related Disorders

Anatomical Context for Flnb-Related Disorders

Publications for Flnb-Related Disorders

Articles related to Flnb-Related Disorders:

# Title Authors Year
1
FLNB-Related Disorders ( 20301736 )
1993

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

Expression for Flnb-Related Disorders

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

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

GO Terms for Flnb-Related Disorders

Sources for Flnb-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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