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MFM5
MCID: MYP079
MIFTS: 46

Myopathy, Myofibrillar, 5 (MFM5)

Categories: Cancer diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Myopathy, Myofibrillar, 5

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MalaCards integrated aliases for Myopathy, Myofibrillar, 5:

Name: Myopathy, Myofibrillar, 5 56 73 13
Myofibrillar Myopathy, Filamin C-Related 29 6
Filaminopathy, Autosomal Dominant 56 71
Myofibrillar Myopathy 5 12 15
Mfm5 56 73
Myopathy, Myofibrillar, Filamin C-Related 56
Myopathy Myofibrillar Filamin C-Related 73
Autosomal Dominant Filaminopathy 73
Myopathy, Myofibrillar, Type 5 39
Mfm Filamin C-Related 73
Muscle Filaminopathy 58
Filaminopathy 12

Characteristics:

Orphanet epidemiological data:

58
muscle filaminopathy
Inheritance: Autosomal dominant;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
adult onset (37 to 57 years)


HPO:

31
myopathy, myofibrillar, 5:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Neuronal diseases Muscle diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080096
OMIM 56 609524
OMIM Phenotypic Series 56 PS601419
MeSH 43 D020914
ICD10 via Orphanet 33 G71.8
UMLS via Orphanet 72 C1836050
Orphanet 58 ORPHA171445
MedGen 41 C1836050
UMLS 71 C1836050
Sources

Summaries for Myopathy, Myofibrillar, 5

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UniProtKB/Swiss-Prot : 73 Myopathy, myofibrillar, 5: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM5 is characterized by onset in adulthood, clinical features of a limb-girdle myopathy, and focal myofibrillar destruction.

MalaCards based summary : Myopathy, Myofibrillar, 5, also known as myofibrillar myopathy, filamin c-related, is related to myofibrillar myopathy and myopathy, and has symptoms including waddling gait An important gene associated with Myopathy, Myofibrillar, 5 is FLNC (Filamin C), and among its related pathways/superpathways are Salmonella infection (KEGG) and Proteoglycans in cancer. Related phenotypes are elevated serum creatine kinase and respiratory insufficiency

Disease Ontology : 12 A myofibrillar myopathy that has material basis in heterozygous mutation in the FLNC gene on chromosome 7q32.

More information from OMIM: 609524 PS601419
Sources

Related Diseases for Myopathy, Myofibrillar, 5

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Diseases in the Myofibrillar Myopathy family:

Myopathy, Myofibrillar, 1 Myopathy, Myofibrillar, 2
Myopathy, Myofibrillar, 3 Myopathy, Myofibrillar, 4
Myopathy, Myofibrillar, 5 Myopathy, Myofibrillar, 6
Myopathy, Myofibrillar, 7 Myopathy, Myofibrillar, 8

Diseases related to Myopathy, Myofibrillar, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 myofibrillar myopathy 29.2 XIRP2 SYNC PLEC NRAP MYOT LDB3
2 myopathy 28.6 SYNC PLEC MYOT LDB3 FLNC CRYAB
3 welander distal myopathy 11.3
4 myopathy, distal, 4 11.3
5 filamin-related bone disorder 11.2
6 otopalatodigital syndrome, type i 10.3 FLNB FLNA
7 dermatophytosis 10.2 FLNC FLNA
8 atelosteogenesis 10.2 FLNB FLNA
9 scapuloperoneal myopathy 10.2 NRAP MYOT
10 aicardi syndrome 10.2
11 miyoshi muscular dystrophy 10.2
12 intestinal pseudo-obstruction 10.2
13 epilepsy 10.2
14 x-linked otopalatodigital spectrum disorders 10.2
15 muscular dystrophy, limb-girdle, autosomal dominant 1 10.1 MYOT BAG3
16 otopalatodigital syndrome spectrum disorder 10.1 FLNB FLNA
17 otopalatodigital syndrome, type ii 10.1 FLNC FLNB FLNA
18 boomerang dysplasia 10.1 FLNC FLNB FLNA
19 melnick-needles syndrome 10.1 FLNB FLNA
20 frontometaphyseal dysplasia 10.1 FLNC FLNB FLNA
21 larsen syndrome 10.1 FLNB FLNA
22 autosomal dominant limb-girdle muscular dystrophy 10.1 MYOT FLNC BAG3
23 periventricular nodular heterotopia 10.0 FLNC FLNB FLNA
24 limb-girdle muscular dystrophy 10.0 PLEC MYOT FLNC
25 epithelial basement membrane dystrophy 9.9 SYNC PLEC
26 epidermolysis bullosa simplex with muscular dystrophy 9.9 SYNC PLEC
27 walker-warburg syndrome 9.8 PLEC MYOT LDB3
28 autosomal recessive limb-girdle muscular dystrophy type 2q 9.8 SYNC PLEC MYOT
29 tibial muscular dystrophy 9.8 MYOT MYOM1 LDB3 FLNC
30 left ventricular noncompaction 9.8 MYOT LDB3 FLNC BAG3
31 restrictive cardiomyopathy 9.8 FLNC CRYAB BAG3
32 muscular dystrophy, congenital, lmna-related 9.7 PLEC MYOT LDB3
33 familial isolated dilated cardiomyopathy 9.7 LDB3 CRYAB BAG3
34 muscular dystrophy, becker type 9.7 SYNC MYOT
35 alexander disease 9.5 PLEC CRYAB
36 myopathy, spheroid body 9.5 MYOT MYOM1 LDB3 FLNC BAG3
37 arrhythmogenic right ventricular cardiomyopathy 9.5 PLEC MYOM1 LDB3
38 neuromuscular disease 9.4 SYNC MYOT LDB3 CRYAB
39 myopathy, myofibrillar, 9, with early respiratory failure 9.3 MYOT LDB3 FLNC CRYAB BAG3
40 reducing body myopathy 1a 9.2 NRAP MYOT MYOM1 LDB3 FLNC BAG3
41 hypertrophic cardiomyopathy 9.1 MYOM1 LDB3 FLNC CRYAB BAG3
42 myopathy, myofibrillar, 4 9.1 NRAP MYOT LDB3 FLNC CRYAB BAG3
43 myopathy, myofibrillar, 3 9.0 SYNC PLEC MYOT LDB3 FLNC BAG3
44 myopathy, myofibrillar, 2 8.6 SYNC PLEC MYOT LDB3 FLNC CRYAB
45 dilated cardiomyopathy 8.3 PLEC NRAP MYOT MYOM1 LDB3 FLNC
46 muscular dystrophy 8.3 SYNC PLEC MYOT LDB3 FLNC FLNA
47 myopathy, myofibrillar, 1 8.1 XIRP2 SYNC PLEC NRAP MYOT LDB3

Graphical network of the top 20 diseases related to Myopathy, Myofibrillar, 5:



Diseases related to Myopathy, Myofibrillar, 5
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Symptoms & Phenotypes for Myopathy, Myofibrillar, 5

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Human phenotypes related to Myopathy, Myofibrillar, 5:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine kinase 31 HP:0003236
2 respiratory insufficiency 31 HP:0002093
3 waddling gait 31 HP:0002515
4 myofibrillar myopathy 31 HP:0003715
5 proximal muscle weakness 31 HP:0003701
6 difficulty climbing stairs 31 HP:0003551
7 muscle fiber splitting 31 HP:0003555
8 abnormal peripheral nervous system morphology 31 HP:0000759
9 muscle fiber cytoplasmatic inclusion bodies 31 HP:0100303

Symptoms via clinical synopsis from OMIM:

56
Respiratory:
respiratory insufficiency

Laboratory Abnormalities:
increased serum creatine kinase

Muscle Soft Tissue:
waddling gait
difficulty climbing stairs
fiber splitting
lower limbs more affected than upper limbs
muscle biopsy shows myofibrillar myopathy
more
Neurologic Peripheral Nervous System:
peripheral nerve involvement may occur

Clinical features from OMIM:

609524

UMLS symptoms related to Myopathy, Myofibrillar, 5:


waddling gait

MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 5:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 BAG3 CRYAB FLNA FLNB FLNC LDB3
2 cardiovascular system MP:0005385 9.76 BAG3 FLNA FLNB FLNC LDB3 PLEC
3 homeostasis/metabolism MP:0005376 9.65 BAG3 CRYAB FLNA FLNB FLNC LDB3
4 muscle MP:0005369 9.17 BAG3 CRYAB FLNC LDB3 PLEC SYNC
Sources

Drugs & Therapeutics for Myopathy, Myofibrillar, 5

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Search Clinical Trials , NIH Clinical Center for Myopathy, Myofibrillar, 5

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Genetic Tests for Myopathy, Myofibrillar, 5

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Genetic tests related to Myopathy, Myofibrillar, 5:

# Genetic test Affiliating Genes
1 Myofibrillar Myopathy, Filamin C-Related 29 FLNC
Sources

Anatomical Context for Myopathy, Myofibrillar, 5

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Publications for Myopathy, Myofibrillar, 5

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Articles related to Myopathy, Myofibrillar, 5:

(show all 27)
# Title Authors PMID Year
1
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. 56 6
19050726 2009
2
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. 6 56
15929027 2005
3
Myofibrillar instability exacerbated by acute exercise in filaminopathy. 56 61
26472074 2015
4
The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy. 6 61
17412757 2007
5
Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. 6
25313375 2014
6
BAG3-related myofibrillar myopathy in a Chinese family. 6
21361913 2012
7
Myofibrillar Myopathy – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301672 2005
8
Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation. 56
11222786 2001
9
First Clinical and Myopathological Description of a Myofibrillar Myopathy with Congenital Onset and Homozygous Mutation in FLNC. 61
32516863 2020
10
The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis. 61
32108395 2020
11
Expanding the phenotype of filamin-C-related myofibrillar myopathy. 61
30496909 2019
12
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy. 61
29858533 2018
13
Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function. 61
28915917 2017
14
Association of mutations in FLNA with craniosynostosis. 61
25873011 2015
15
Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy. 61
23639843 2013
16
Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations. 61
23238331 2013
17
Filamin C-related myopathies: pathology and mechanisms. 61
23109048 2013
18
Heterogeneity of platelet functional alterations in patients with filamin A mutations. 61
23117662 2013
19
A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients. 61
23115302 2013
20
Pathophysiology of protein aggregation and extended phenotyping in filaminopathy. 61
22961544 2012
21
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia. 61
22806379 2012
22
PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females. 61
22190899 2011
23
A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family. 61
20417099 2010
24
Hyaline protoplasmic astrocytopathy of neocortex. 61
19151628 2009
25
Distinct muscle imaging patterns in myofibrillar myopathies. 61
18765652 2008
26
Astrocytic inclusions in epilepsy: expanding the spectrum of filaminopathies. 61
18596546 2008
27
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. 61
18055494 2007
Sources

Variations for Myopathy, Myofibrillar, 5

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ClinVar genetic disease variations for Myopathy, Myofibrillar, 5:

6 (show top 50) (show all 1165) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FLNC NM_001458.4(FLNC):c.1948C>T (p.Arg650Ter)SNV Pathogenic 421215 rs770606675 7:128481358-128481358 7:128841304-128841304
2 FLNC NM_001458.4(FLNC):c.4716del (p.Leu1573fs)deletion Pathogenic 478127 rs1554400021 7:128488747-128488747 7:128848693-128848693
3 FLNC NM_001458.4(FLNC):c.7294C>T (p.Gln2432Ter)SNV Pathogenic 478131 rs1554401756 7:128496614-128496614 7:128856560-128856560
4 FLNC NM_001458.4(FLNC):c.1519_1525del (p.Gly507fs)deletion Pathogenic 478121 rs1554398092 7:128480181-128480187 7:128840127-128840133
5 FLNC NM_001458.4(FLNC):c.2390-10_2406deldeletion Pathogenic 478125 rs1554398674 7:128482836-128482862 7:128842782-128842808
6 FLNC NM_001458.4(FLNC):c.4926_4927insACGTCACA (p.Val1643fs)insertion Pathogenic 478128 rs1402879259 7:128489028-128489029 7:128848974-128848975
7 FLNC NM_001458.4(FLNC):c.6976C>T (p.Arg2326Ter)SNV Pathogenic 478129 rs748416758 7:128494715-128494715 7:128854661-128854661
8 FLNC NM_001458.4(FLNC):c.7371del (p.Glu2458fs)deletion Pathogenic 478132 rs1554401780 7:128496691-128496691 7:128856637-128856637
9 FLNC NM_001458.4(FLNC):c.3934_3937dup (p.Arg1313fs)duplication Pathogenic 478126 rs1554399513 7:128486183-128486184 7:128846129-128846130
10 FLNC NM_001458.4(FLNC):c.7496_7497insTGCT (p.Gln2499fs)insertion Pathogenic 539334 rs1554401830 7:128496910-128496911 7:128856856-128856857
11 FLNC NM_001458.4(FLNC):c.444G>A (p.Trp148Ter)SNV Pathogenic 539439 rs1554397197 7:128475471-128475471 7:128835417-128835417
12 FLNC NM_001458.4(FLNC):c.805C>T (p.Arg269Ter)SNV Pathogenic 539411 rs755583250 7:128477557-128477557 7:128837503-128837503
13 FLNC NM_001458.4(FLNC):c.5165del (p.Gly1722fs)deletion Pathogenic 539390 rs1554400242 7:128489594-128489594 7:128849540-128849540
14 FLNC NM_001458.4(FLNC):c.5697dup (p.Ser1900fs)duplication Pathogenic 539446 rs1554400700 7:128491536-128491537 7:128851482-128851483
15 FLNC NM_001458.4(FLNC):c.1605C>A (p.Cys535Ter)SNV Pathogenic 539354 rs199976790 7:128480657-128480657 7:128840603-128840603
16 FLNC NM_001458.4(FLNC):c.2065G>T (p.Glu689Ter)SNV Pathogenic 539448 rs1446694237 7:128481565-128481565 7:128841511-128841511
17 FLNC NM_001458.4(FLNC):c.7251+1G>ASNV Pathogenic 539340 rs1554401581 7:128495369-128495369 7:128855315-128855315
18 FLNC NM_001458.4(FLNC):c.7536_7548del (p.Pro2513fs)deletion Pathogenic 539437 rs1554401837 7:128496949-128496961 7:128856895-128856907
19 FLNC NM_001458.4(FLNC):c.4621A>T (p.Lys1541Ter)SNV Pathogenic 577928 rs1562999451 7:128488655-128488655 7:128848601-128848601
20 FLNC NM_001458.4(FLNC):c.4333_4336del (p.Gly1444_Lys1445insTer)deletion Pathogenic 571885 rs1562998858 7:128487793-128487796 7:128847739-128847742
21 FLNC NM_001458.4(FLNC):c.6447del (p.Ile2150fs)deletion Pathogenic 574095 rs1563003153 7:128493853-128493853 7:128853799-128853799
22 FLNC NM_001458.4(FLNC):c.5653A>T (p.Lys1885Ter)SNV Pathogenic 567717 rs1563001456 7:128491399-128491399 7:128851345-128851345
23 FLNC NC_000007.14:g.(?_128830618)_(128858543_?)deldeletion Pathogenic 584412 7:128470672-128498597 7:128830618-128858543
24 FLNC NM_001458.4(FLNC):c.5672delGdeletion Pathogenic 567017 rs1563001548 7:128491508-128491508 7:128851454-128851454
25 FLNC NM_001458.4(FLNC):c.3937C>T (p.Arg1313Ter)SNV Pathogenic 579589 rs766330686 7:128486190-128486190 7:128846136-128846136
26 FLNC NM_001458.4(FLNC):c.554G>A (p.Trp185Ter)SNV Pathogenic 643595 7:128475581-128475581 7:128835527-128835527
27 FLNC NM_001458.4(FLNC):c.1861_1885dup (p.Arg629fs)duplication Pathogenic 663736 7:128481269-128481270 7:128841215-128841216
28 FLNC NM_001458.4(FLNC):c.4729C>T (p.Gln1577Ter)SNV Pathogenic 645256 7:128488763-128488763 7:128848709-128848709
29 FLNC NM_001127487.2(FLNC):c.147delinsTCT (p.Lys51fs)indel Pathogenic 567163 rs1562988883 7:128470838-128470838 7:128830784-128830784
30 FLNC NM_001458.4(FLNC):c.5675_5678del (p.Leu1892fs)deletion Pathogenic 660879 7:128491512-128491515 7:128851458-128851461
31 FLNC NM_001458.4(FLNC):c.6242dup (p.Ser2082fs)duplication Pathogenic 661219 7:128493553-128493554 7:128853499-128853500
32 FLNC NM_001458.4(FLNC):c.6883C>T (p.Gln2295Ter)SNV Pathogenic 642313 7:128494622-128494622 7:128854568-128854568
33 FLNC NM_001458.4(FLNC):c.7365C>A (p.Tyr2455Ter)SNV Pathogenic 651699 7:128496685-128496685 7:128856631-128856631
34 FLNC NM_001458.4(FLNC):c.5904dup (p.Ile1969fs)duplication Pathogenic 640320 7:128492705-128492706 7:128852651-128852652
35 FLNC NM_001127487.2(FLNC):c.7235_7236AC[2] (p.Pro2414fs)short repeat Pathogenic 659634 7:128496653-128496654 7:128856599-128856600
36 FLNC NM_001458.4(FLNC):c.4127+1G>TSNV Pathogenic 643473 7:128486518-128486518 7:128846464-128846464
37 FLNC NC_000007.14:g.(?_128848551)_(128848992_?)deldeletion Pathogenic 830847 7:128488605-128489046
38 FLNC NM_001458.4(FLNC):c.964G>T (p.Glu322Ter)SNV Pathogenic 853279 7:128477804-128477804 7:128837750-128837750
39 FLNC NM_001458.4(FLNC):c.1027A>T (p.Lys343Ter)SNV Pathogenic 859534 7:128478098-128478098 7:128838044-128838044
40 FLNC NM_001458.4(FLNC):c.1844dup (p.Ile616fs)duplication Pathogenic 860643 7:128481252-128481253 7:128841198-128841199
41 FLNC NM_001458.4(FLNC):c.2119C>T (p.Gln707Ter)SNV Pathogenic 849024 7:128481619-128481619 7:128841565-128841565
42 FLNC NM_001458.4(FLNC):c.2507del (p.Pro836fs)deletion Pathogenic 858026 7:128482964-128482964 7:128842910-128842910
43 FLNC NM_001458.4(FLNC):c.3084C>A (p.Tyr1028Ter)SNV Pathogenic 841507 7:128484212-128484212 7:128844158-128844158
44 FLNC NM_001458.4(FLNC):c.3415del (p.His1139fs)deletion Pathogenic 859741 7:128484932-128484932 7:128844878-128844878
45 FLNC NM_001458.4(FLNC):c.4108C>T (p.Arg1370Ter)SNV Pathogenic 842060 7:128486498-128486498 7:128846444-128846444
46 FLNC NM_001458.4(FLNC):c.4984C>T (p.Gln1662Ter)SNV Pathogenic 852214 7:128489417-128489417 7:128849363-128849363
47 FLNC NM_001458.4(FLNC):c.5469_5482del (p.Val1824fs)deletion Pathogenic 845598 7:128490924-128490937 7:128850870-128850883
48 FLNC NM_001458.4(FLNC):c.6190dup (p.Val2064fs)duplication Pathogenic 843365 7:128493066-128493067 7:128853012-128853013
49 FLNC NM_001458.4(FLNC):c.6753dup (p.Ala2252fs)duplication Pathogenic 837501 7:128494491-128494492 7:128854437-128854438
50 FLNC NM_001458.4(FLNC):c.3699del (p.Val1235fs)deletion Pathogenic 834916 7:128485218-128485218 7:128845164-128845164
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Expression for Myopathy, Myofibrillar, 5

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Search GEO for disease gene expression data for Myopathy, Myofibrillar, 5.
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Pathways for Myopathy, Myofibrillar, 5

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Pathways related to Myopathy, Myofibrillar, 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Salmonella infection (KEGG) 36
11.75 FLNC FLNB FLNA
2
Proteoglycans in cancer 36
11.64 FLNC FLNB FLNA
3
Cytoskeletal Signaling 4
11.41 PLEC FLNC FLNB FLNA
4
Transcription_P53 signaling pathway 22
10.86 FLNC FLNB FLNA
Sources

GO Terms for Myopathy, Myofibrillar, 5

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Cellular components related to Myopathy, Myofibrillar, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.88 PLEC MYOT LDB3 FLNC FLNB FLNA
2 focal adhesion GO:0005925 9.65 XIRP2 PLEC FLNC FLNB FLNA
3 M band GO:0031430 9.46 MYOM1 CRYAB
4 sarcolemma GO:0042383 9.46 SYNC PLEC MYOT FLNC
5 costamere GO:0043034 9.43 PLEC FLNC
6 contractile fiber GO:0043292 9.37 PLEC CRYAB
7 Z disc GO:0030018 9.36 XIRP2 SYNC NRAP MYOT MYOM1 LDB3
8 sarcoplasm GO:0016528 9.32 PLEC FLNC
9 stress fiber GO:0001725 9.26 XIRP2 LDB3 FLNB BAG3

Biological processes related to Myopathy, Myofibrillar, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein stabilization GO:0050821 9.54 FLNA CRYAB BAG3
2 positive regulation of protein import into nucleus GO:0042307 9.43 FLNA BAG3
3 sarcomere organization GO:0045214 9.4 MYOM1 LDB3
4 muscle fiber development GO:0048747 9.32 NRAP FLNC
5 cell junction assembly GO:0034329 9.26 FLNC FLNA
6 cardiac muscle tissue morphogenesis GO:0055008 9.16 XIRP2 MYOM1
7 muscle contraction GO:0006936 9.13 MYOT MYOM1 CRYAB
8 actin cytoskeleton organization GO:0030036 8.92 XIRP2 LDB3 FLNB FLNA

Molecular functions related to Myopathy, Myofibrillar, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cadherin binding GO:0045296 9.67 PLEC FLNB FLNA BAG3
2 actin filament binding GO:0051015 9.62 XIRP2 NRAP MYOM1 FLNA
3 cytoskeletal protein binding GO:0008092 9.46 PLEC LDB3 FLNC CRYAB
4 ankyrin binding GO:0030506 9.43 PLEC FLNC
5 structural constituent of muscle GO:0008307 9.43 PLEC MYOT MYOM1
6 alpha-actinin binding GO:0051393 9.4 XIRP2 MYOT
7 actin binding GO:0003779 9.23 XIRP2 PLEC NRAP MYOT LDB3 FLNC
8 muscle alpha-actinin binding GO:0051371 9.13 NRAP MYOM1 LDB3
Sources

Sources for Myopathy, Myofibrillar, 5

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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