MFM4
MCID: MYP080
MIFTS: 43

Myopathy, Myofibrillar, 4 (MFM4)

Categories: Cancer diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Smell/Taste diseases

Aliases & Classifications for Myopathy, Myofibrillar, 4

MalaCards integrated aliases for Myopathy, Myofibrillar, 4:

Name: Myopathy, Myofibrillar, 4 57 72 6
Myofibrillar Myopathy 4 12 15
Mfm4 57 72
Late-Onset Distal Myopathy, Markesbery-Griggs Type 58
Myopathy, Myofibrillar, Zasp-Related 70
Zasp-Related Myofibrillar Myopathy 58
Zaspopathy 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in late adulthood (44 to 73 years)


HPO:

31
myopathy, myofibrillar, 4:
Inheritance autosomal dominant inheritance
Onset and clinical course late onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080095
OMIM® 57 609452
OMIM Phenotypic Series 57 PS601419
MeSH 44 D020914
ICD10 via Orphanet 33 G71.8
UMLS via Orphanet 71 C1836155
Orphanet 58 ORPHA98912
UMLS 70 C1836155

Summaries for Myopathy, Myofibrillar, 4

UniProtKB/Swiss-Prot : 72 Myopathy, myofibrillar, 4: 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. MFM4 is characterized by distal and proximal muscle weakness with signs of cardiomyopathy and neuropathy.

MalaCards based summary : Myopathy, Myofibrillar, 4, also known as myofibrillar myopathy 4, is related to late-onset distal myopathy, markesbery-griggs type and autosomal dominant distal myopathy. An important gene associated with Myopathy, Myofibrillar, 4 is LDB3 (LIM Domain Binding 3), and among its related pathways/superpathways is Striated Muscle Contraction. Affiliated tissues include heart and skeletal muscle, and related phenotypes are progressive proximal muscle weakness and cardiomyopathy

Disease Ontology : 12 A myofibrillar myopathy that has material basis in heterozygous mutation in the ZASP gene on chromosome 10.

More information from OMIM: 609452 PS601419

Related Diseases for Myopathy, Myofibrillar, 4

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
Myofibrillar Myopathy 10 Myofibrillar Myopathy 11

Diseases related to Myopathy, Myofibrillar, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 late-onset distal myopathy, markesbery-griggs type 33.1 LOC110121486 LDB3
2 autosomal dominant distal myopathy 30.1 TTN MYOT
3 miyoshi muscular dystrophy 29.8 TTN TCAP MYOT FLNC
4 neuromuscular disease 28.2 TTN TCAP NEB MYOT LOC110121486 LDB3
5 myofibrillar myopathy 28.1 TTN TCAP NRAP NEB MYPN MYOZ2
6 myopathy 27.3 TTN TCAP NEB MYPN MYOZ2 MYOZ1
7 scapuloperoneal syndrome, neurogenic, kaeser type 10.3 MYOT LDB3
8 cardiomyopathy, familial restrictive, 2 10.3 MYPN FLNC
9 cardiomyopathy, familial restrictive, 3 10.2 MYPN FLNC
10 autosomal recessive limb-girdle muscular dystrophy type 2q 10.2 TCAP MYOT
11 autosomal recessive limb-girdle muscular dystrophy type 2h 10.2 TCAP MYOT
12 autosomal recessive limb-girdle muscular dystrophy type 2c 10.2 TCAP MYOT
13 autosomal recessive limb-girdle muscular dystrophy type 2f 10.2 TCAP MYOT
14 muscular dystrophy, limb-girdle, autosomal dominant 1 10.2 MYOT BAG3
15 central core disease of muscle 10.2 NEB MYOT
16 muscular dystrophy, limb-girdle, autosomal dominant 2 10.2 TCAP MYOT
17 scapuloperoneal myopathy 10.1 NRAP MYOT
18 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 TTN LDB3
19 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.1 TTN LDB3
20 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 TTN LDB3
21 left ventricular noncompaction 1 10.1 MYPN LOC110121486 LDB3 ACTN2
22 cardiomyopathy, dilated, 1dd 10.1 TTN LDB3
23 autosomal recessive limb-girdle muscular dystrophy type 2d 10.0 TCAP MYOT
24 cardioneuromyopathy with hyaline masses and nemaline rods 10.0 TTN NEB
25 muscular dystrophy, limb-girdle, autosomal recessive 4 10.0 TTN TCAP
26 reducing body myopathy 10.0 TTN NEB
27 emery-dreifuss muscular dystrophy 10.0 TTN MYOT LDB3
28 glycogen storage disease vii 10.0 MYOZ3 AMPD1
29 autosomal dominant limb-girdle muscular dystrophy 10.0 TCAP MYOT FLNC BAG3
30 muscular dystrophy, limb-girdle, autosomal recessive 6 10.0 TTN TCAP
31 muscular dystrophy, limb-girdle, autosomal recessive 8 9.9 TTN TCAP
32 myopathy, myofibrillar, 2 9.9 MYOT LDB3 FLNC CRYAB BAG3
33 limb-girdle muscular dystrophy 9.9 TTN TCAP MYOT
34 syncope 9.9 TTN ACTN2
35 cardiomyopathy, dilated, 1a 9.9 TTN MYOT BAG3
36 cardiomyopathy, dilated, 1b 9.9 TTN FLNC BAG3
37 cardiomyopathy, dilated, 1h 9.9 TTN MYOZ1 BAG3
38 muscular dystrophy, limb-girdle, autosomal recessive 7 9.9 TTN TCAP MYOT
39 autosomal recessive limb-girdle muscular dystrophy type 2j 9.9 TTN TCAP MYOT
40 autosomal recessive limb-girdle muscular dystrophy type 2g 9.9 TTN TCAP MYOT
41 nonaka myopathy 9.9 TTN MYOT LDB3 FLNC
42 batten-turner congenital myopathy 9.9
43 muscular dystrophy-dystroglycanopathy , type c, 5 9.9 TTN TCAP MYOT
44 foot drop 9.9 TTN NEB MYOT
45 nemaline myopathy 2 9.9 NEB MYPN
46 rigid spine muscular dystrophy 1 9.8 TTN MYOT LDB3 BAG3
47 muscular dystrophy, limb-girdle, autosomal recessive 2 9.8 TTN TCAP MYOT
48 limb-girdle muscular dystrophy type 1a 9.8 TTN TCAP MYOT FLNC
49 cardiomyopathy, dilated, 1m 9.8 TCAP CSRP3
50 autosomal recessive limb-girdle muscular dystrophy 9.8 TTN TCAP MYOT FLNC

Graphical network of the top 20 diseases related to Myopathy, Myofibrillar, 4:



Diseases related to Myopathy, Myofibrillar, 4

Symptoms & Phenotypes for Myopathy, Myofibrillar, 4

Human phenotypes related to Myopathy, Myofibrillar, 4:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive proximal muscle weakness 58 31 Frequent (79-30%) HP:0009073
2 cardiomyopathy 58 31 Very rare (<4-1%) HP:0001638
3 gait disturbance 58 Very rare (<4-1%)
4 abnormality of the cardiovascular system 58 Occasional (29-5%)
5 elevated serum creatine kinase 31 HP:0003236
6 emg: myopathic abnormalities 31 HP:0003458
7 proximal muscle weakness in upper limbs 58 Very rare (<4-1%)
8 peripheral neuropathy 58 Very rare (<4-1%)
9 heart block 58 Very rare (<4-1%)
10 generalized muscle weakness 58 Very rare (<4-1%)
11 polyneuropathy 31 HP:0001271
12 myofibrillar myopathy 31 HP:0003715
13 loss of ability to walk 58 Excluded (0%)
14 progressive inability to walk 58 Excluded (0%)
15 progressive muscle weakness 31 HP:0003323
16 wrist drop 58 Occasional (29-5%)
17 intrinsic hand muscle atrophy 58 Frequent (79-30%)
18 foot dorsiflexor weakness 58 Very rare (<4-1%)
19 weakness of long finger extensor muscles 58 Occasional (29-5%)
20 left ventricular dysfunction 58 Very rare (<4-1%)
21 muscle fiber splitting 31 HP:0003555
22 autophagic vacuoles 31 HP:0003736
23 leg muscle stiffness 58 Occasional (29-5%)
24 emg: neuropathic changes 31 HP:0003445
25 hyporeflexia of lower limbs 31 HP:0002600
26 limb-girdle muscle weakness 58 Very rare (<4-1%)
27 fatigable weakness of distal limb muscles 58 Frequent (79-30%)
28 ankle weakness 58 Occasional (29-5%)
29 weakness of the intrinsic hand muscles 58 Occasional (29-5%)
30 decreased achilles reflex 58 Very rare (<4-1%)
31 decreased patellar reflex 58 Very rare (<4-1%)
32 progressive distal muscle weakness 31 HP:0009063

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Peripheral Nervous System:
peripheral neuropathy
hyporeflexia in lower limbs

Laboratory Abnormalities:
increased serum creatine kinase
serum creatine kinase may be normal

Muscle Soft Tissue:
autophagic vacuoles
myopathic changes seen on emg
fiber splitting
internal nuclei
muscle weakness, progressive, distal
more
Cardiovascular Heart:
cardiomyopathy (less common)

Clinical features from OMIM®:

609452 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 AMPD1 ANKRD23 BAG3 CSRP3 FLNC LDB3
2 muscle MP:0005369 9.44 AMPD1 ANKRD23 BAG3 CRYAB CSRP3 FLNC

Drugs & Therapeutics for Myopathy, Myofibrillar, 4

Search Clinical Trials , NIH Clinical Center for Myopathy, Myofibrillar, 4

Genetic Tests for Myopathy, Myofibrillar, 4

Anatomical Context for Myopathy, Myofibrillar, 4

MalaCards organs/tissues related to Myopathy, Myofibrillar, 4:

40
Heart, Skeletal Muscle

Publications for Myopathy, Myofibrillar, 4

Articles related to Myopathy, Myofibrillar, 4:

# Title Authors PMID Year
1
Mutations in ZASP define a novel form of muscular dystrophy in humans. 57 6
15668942 2005
2
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. 6
25208129 2014
3
Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy. 6
24668811 2014
4
ZASP interacts with the mechanosensing protein Ankrd2 and p53 in the signalling network of striated muscle. 6
24647531 2014
5
[Myofibrillary myopathy due to the ZASP mutation Ala147Thr : two cases with exclusively distal leg involvement]. 6
23263837 2013
6
Identification of genes encoding squalestatin S1 biosynthesis and in vitro production of new squalestatin analogues. 61
27056201 2016

Variations for Myopathy, Myofibrillar, 4

ClinVar genetic disease variations for Myopathy, Myofibrillar, 4:

6 (show top 50) (show all 353)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LDB3 , LOC110121486 NM_007078.3(LDB3):c.690-4732C>T SNV Pathogenic 41040 rs281865143 GRCh37: 10:88446921-88446921
GRCh38: 10:86687164-86687164
2 LDB3 , LOC110121486 NM_007078.3(LDB3):c.690-4733G>A SNV Pathogenic 4727 rs121908333 GRCh37: 10:88446920-88446920
GRCh38: 10:86687163-86687163
3 LDB3 , LOC110121486 NM_007078.3(LDB3):c.690-4678C>T SNV Pathogenic 4728 rs121908334 GRCh37: 10:88446975-88446975
GRCh38: 10:86687218-86687218
4 LDB3 NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) SNV Conflicting interpretations of pathogenicity 45527 rs138951890 GRCh37: 10:88476387-88476387
GRCh38: 10:86716630-86716630
5 LDB3 , LOC110121486 NM_007078.3(LDB3):c.690-4716G>A SNV Conflicting interpretations of pathogenicity 179019 rs371708921 GRCh37: 10:88446937-88446937
GRCh38: 10:86687180-86687180
6 LDB3 , LOC110121486 NM_007078.3(LDB3):c.690-4626T>C SNV Conflicting interpretations of pathogenicity 43880 rs71473272 GRCh37: 10:88447027-88447027
GRCh38: 10:86687270-86687270
7 LDB3 NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile) SNV Conflicting interpretations of pathogenicity 222687 rs200796750 GRCh37: 10:88466440-88466440
GRCh38: 10:86706683-86706683
8 LDB3 NM_007078.3(LDB3):c.690-4A>G SNV Conflicting interpretations of pathogenicity 36448 rs45529531 GRCh37: 10:88451649-88451649
GRCh38: 10:86691892-86691892
9 LDB3 , LOC110121486 NM_007078.3(LDB3):c.690-4661G>A SNV Conflicting interpretations of pathogenicity 163835 rs373632943 GRCh37: 10:88446992-88446992
GRCh38: 10:86687235-86687235
10 LDB3 NM_007078.3(LDB3):c.529dup (p.Ala177fs) Duplication Uncertain significance 178668 rs730880345 GRCh37: 10:88441395-88441396
GRCh38: 10:86681638-86681639
11 LDB3 NM_007078.3(LDB3):c.668C>T (p.Ser223Leu) SNV Uncertain significance 227498 rs375306400 GRCh37: 10:88441539-88441539
GRCh38: 10:86681782-86681782
12 LDB3 NM_007078.3(LDB3):c.1971C>T (p.Cys657=) SNV Uncertain significance 45537 rs140552419 GRCh37: 10:88478597-88478597
GRCh38: 10:86718840-86718840
13 LDB3 , LOC110121486 NM_007078.3(LDB3):c.690-4617G>A SNV Uncertain significance 301335 rs754174632 GRCh37: 10:88447036-88447036
GRCh38: 10:86687279-86687279
14 LDB3 NM_007078.3(LDB3):c.287T>C (p.Val96Ala) SNV Uncertain significance 201834 rs794729056 GRCh37: 10:88439880-88439880
GRCh38: 10:86680123-86680123
15 LDB3 NM_007078.3(LDB3):c.2124G>A (p.Pro708=) SNV Uncertain significance 389706 rs759812655 GRCh37: 10:88492673-88492673
GRCh38: 10:86732916-86732916
16 LDB3 NM_007078.3(LDB3):c.1774G>C (p.Glu592Gln) SNV Uncertain significance 179553 rs727504944 GRCh37: 10:88477818-88477818
GRCh38: 10:86718061-86718061
17 LDB3 NM_007078.3(LDB3):c.2017G>A (p.Asp673Asn) SNV Uncertain significance 4735 rs45514002 GRCh37: 10:88485932-88485932
GRCh38: 10:86726175-86726175
18 LDB3 NM_007078.3(LDB3):c.896+6753C>T SNV Uncertain significance 4729 rs121908335 GRCh37: 10:88459081-88459081
GRCh38: 10:86699324-86699324
19 LDB3 NM_007078.3(LDB3):c.1703G>A (p.Arg568His) SNV Uncertain significance 464286 rs769156627 GRCh37: 10:88477747-88477747
GRCh38: 10:86717990-86717990
20 LDB3 NM_007078.3(LDB3):c.1696A>G (p.Met566Val) SNV Uncertain significance 646981 rs775232208 GRCh37: 10:88477740-88477740
GRCh38: 10:86717983-86717983
21 LDB3 , LOC110121486 NM_007078.3(LDB3):c.690-4682G>C SNV Uncertain significance 532931 rs1000020884 GRCh37: 10:88446971-88446971
GRCh38: 10:86687214-86687214
22 LDB3 NM_007078.3(LDB3):c.139G>A (p.Asp47Asn) SNV Uncertain significance 45517 rs397517212 GRCh37: 10:88439169-88439169
GRCh38: 10:86679412-86679412
23 LDB3 NM_007078.3(LDB3):c.2119C>T (p.Gln707Ter) SNV Uncertain significance 658042 rs771316707 GRCh37: 10:88492668-88492668
GRCh38: 10:86732911-86732911
24 LDB3 NM_007078.3(LDB3):c.290A>G (p.Gln97Arg) SNV Uncertain significance 217828 rs762580653 GRCh37: 10:88439883-88439883
GRCh38: 10:86680126-86680126
25 LDB3 , LOC110121486 NM_007078.3(LDB3):c.690-4682G>C SNV Uncertain significance 532931 rs1000020884 GRCh37: 10:88446971-88446971
GRCh38: 10:86687214-86687214
26 LDB3 NM_007078.3(LDB3):c.897-6909G>A SNV Uncertain significance 301339 rs532856980 GRCh37: 10:88459379-88459379
GRCh38: 10:86699622-86699622
27 LDB3 NM_007078.3(LDB3):c.897-6831C>T SNV Uncertain significance 301341 rs886047355 GRCh37: 10:88459457-88459457
GRCh38: 10:86699700-86699700
28 LDB3 NM_007078.3(LDB3):c.896+6957G>A SNV Uncertain significance 301337 rs886047354 GRCh37: 10:88459285-88459285
GRCh38: 10:86699528-86699528
29 LDB3 NM_007078.3(LDB3):c.30C>G (p.Pro10=) SNV Uncertain significance 301332 rs766817285 GRCh37: 10:88428478-88428478
GRCh38: 10:86668721-86668721
30 LDB3 NM_007078.3(LDB3):c.897-6707G>A SNV Uncertain significance 301342 rs537660741 GRCh37: 10:88459581-88459581
GRCh38: 10:86699824-86699824
31 LDB3 NM_007078.3(LDB3):c.896+6814G>A SNV Uncertain significance 877397 GRCh37: 10:88459142-88459142
GRCh38: 10:86699385-86699385
32 LDB3 NM_007078.3(LDB3):c.896+6872G>A SNV Uncertain significance 877398 GRCh37: 10:88459200-88459200
GRCh38: 10:86699443-86699443
33 LDB3 NM_007078.3(LDB3):c.897-6745C>T SNV Uncertain significance 877456 GRCh37: 10:88459543-88459543
GRCh38: 10:86699786-86699786
34 LDB3 NM_007078.3(LDB3):c.897-6719C>T SNV Uncertain significance 877457 GRCh37: 10:88459569-88459569
GRCh38: 10:86699812-86699812
35 LDB3 NM_007078.3(LDB3):c.897-6702C>G SNV Uncertain significance 878478 GRCh37: 10:88459586-88459586
GRCh38: 10:86699829-86699829
36 LDB3 NM_007078.3(LDB3):c.897-6700G>A SNV Uncertain significance 878479 GRCh37: 10:88459588-88459588
GRCh38: 10:86699831-86699831
37 LDB3 NM_007078.3(LDB3):c.897-6692C>T SNV Uncertain significance 878480 GRCh37: 10:88459596-88459596
GRCh38: 10:86699839-86699839
38 LDB3 NM_007078.3(LDB3):c.897-6861G>A SNV Uncertain significance 879009 GRCh37: 10:88459427-88459427
GRCh38: 10:86699670-86699670
39 LDB3 NM_007078.3(LDB3):c.897-6664G>A SNV Uncertain significance 879063 GRCh37: 10:88459624-88459624
GRCh38: 10:86699867-86699867
40 LDB3 NM_007078.3(LDB3):c.896+6695T>C SNV Uncertain significance 880175 GRCh37: 10:88459023-88459023
GRCh38: 10:86699266-86699266
41 LDB3 NM_007078.3(LDB3):c.1018G>C (p.Ala340Pro) SNV Uncertain significance 626501 rs755329877 GRCh37: 10:88466409-88466409
GRCh38: 10:86706652-86706652
42 LDB3 NM_007078.3(LDB3):c.1609del (p.Gln537fs) Deletion Uncertain significance 163850 rs727503129 GRCh37: 10:88476460-88476460
GRCh38: 10:86716703-86716703
43 LDB3 NM_007078.3(LDB3):c.1339C>G (p.Pro447Ala) SNV Uncertain significance 45516 rs397517211 GRCh37: 10:88476191-88476191
GRCh38: 10:86716434-86716434
44 LDB3 NM_007078.3(LDB3):c.1907G>A (p.Cys636Tyr) SNV Uncertain significance 45535 rs397517218 GRCh37: 10:88478533-88478533
GRCh38: 10:86718776-86718776
45 LDB3 NM_007078.3(LDB3):c.-24+41G>A SNV Uncertain significance 301330 rs45578532 GRCh37: 10:88428368-88428368
GRCh38: 10:86668611-86668611
46 LDB3 NM_007078.3(LDB3):c.723C>T (p.Ser241=) SNV Uncertain significance 301336 rs200580597 GRCh37: 10:88451686-88451686
GRCh38: 10:86691929-86691929
47 LDB3 NM_007078.3(LDB3):c.897-6525T>C SNV Uncertain significance 301344 rs886047356 GRCh37: 10:88459763-88459763
GRCh38: 10:86700006-86700006
48 LDB3 NM_007078.3(LDB3):c.2155A>C (p.Lys719Gln) SNV Uncertain significance 519083 rs397517220 GRCh37: 10:88492704-88492704
GRCh38: 10:86732947-86732947
49 LDB3 NM_007078.3(LDB3):c.548del (p.Pro183fs) Deletion Uncertain significance 518778 rs1285270306 GRCh37: 10:88441417-88441417
GRCh38: 10:86681660-86681660
50 LDB3 and overlap with 1 gene(s) NC_000010.11:g.(?_86668564)_(86700053_?)del Deletion Uncertain significance 417392 GRCh37: 10:88428321-88459810
GRCh38: 10:86668564-86700053

Expression for Myopathy, Myofibrillar, 4

Search GEO for disease gene expression data for Myopathy, Myofibrillar, 4.

Pathways for Myopathy, Myofibrillar, 4

Pathways related to Myopathy, Myofibrillar, 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.78 TTN TCAP NEB ACTN2

GO Terms for Myopathy, Myofibrillar, 4

Cellular components related to Myopathy, Myofibrillar, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.25 TTN TCAP NEB MYPN MYOZ3 MYOZ2
2 actin cytoskeleton GO:0015629 9.73 NEB MYOZ3 MYOZ2 MYOZ1 MYOT ANKRD23
3 myofibril GO:0030016 9.54 NRAP NEB ANKRD23
4 pseudopodium GO:0031143 9.5 MYOZ1 LDB3 ACTN2
5 Z disc GO:0030018 9.5 TTN TCAP NRAP NEB MYPN MYOZ3
6 M band GO:0031430 9.46 TTN CRYAB
7 I band GO:0031674 9.46 TTN TCAP MYPN CRYAB
8 sarcomere GO:0030017 9.43 TCAP NEB MYPN MYOZ2 CSRP3 ACTN2
9 contractile fiber GO:0043292 9.4 NEB CRYAB

Biological processes related to Myopathy, Myofibrillar, 4 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.74 NEB CSRP3 CRYAB
2 muscle contraction GO:0006936 9.71 TTN MYOT CRYAB ACTN2
3 skeletal muscle tissue development GO:0007519 9.7 MYOZ2 MYOZ1 CSRP3
4 cardiac muscle contraction GO:0060048 9.67 TTN TCAP CSRP3
5 negative regulation of calcineurin-NFAT signaling cascade GO:0070885 9.58 MYOZ2 MYOZ1
6 cardiac muscle tissue morphogenesis GO:0055008 9.56 TTN TCAP
7 cardiac muscle fiber development GO:0048739 9.55 TTN TCAP
8 skeletal muscle thin filament assembly GO:0030240 9.54 TTN TCAP
9 muscle fiber development GO:0048747 9.54 NRAP NEB FLNC
10 skeletal muscle fiber adaptation GO:0043503 9.51 MYOZ2 MYOZ1
11 cardiac myofibril assembly GO:0055003 9.5 TTN TCAP CSRP3
12 cardiac muscle thin filament assembly GO:0071691 9.48 NRAP NEB
13 sarcomerogenesis GO:0048769 9.46 TTN TCAP
14 skeletal muscle myosin thick filament assembly GO:0030241 9.43 TTN TCAP
15 cardiac muscle hypertrophy GO:0003300 9.43 TTN TCAP CSRP3
16 detection of muscle stretch GO:0035995 9.33 TTN TCAP CSRP3
17 muscle filament sliding GO:0030049 9.26 TTN TCAP NEB ACTN2
18 sarcomere organization GO:0045214 9.23 TTN TCAP MYPN MYOZ2 MYOZ1 LDB3

Molecular functions related to Myopathy, Myofibrillar, 4 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.42 TTN TCAP NRAP NEB MYPN MYOZ3
2 cytoskeletal protein binding GO:0008092 9.77 MYPN LDB3 FLNC CRYAB ACTN2
3 actin filament binding GO:0051015 9.76 TTN NRAP NEB ACTN2
4 structural constituent of muscle GO:0008307 9.73 TTN TCAP NEB MYOT CSRP3 ACTN2
5 muscle alpha-actinin binding GO:0051371 9.62 TTN NRAP MYPN LDB3
6 titin binding GO:0031432 9.58 TCAP ANKRD23 ACTN2
7 telethonin binding GO:0031433 9.55 TTN MYOZ3 MYOZ2 MYOZ1 CSRP3
8 actinin binding GO:0042805 9.48 TTN CSRP3
9 titin Z domain binding GO:0070080 9.43 TCAP ACTN2
10 actin binding GO:0003779 9.36 NRAP NEB MYPN MYOZ3 MYOZ2 MYOZ1
11 FATZ binding GO:0051373 9.35 TCAP MYOZ3 MYOZ2 MYOZ1 ACTN2

Sources for Myopathy, Myofibrillar, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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