LGMDR7
MCID: MSC174
MIFTS: 42

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 (LGMDR7)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 57 73
Lgmd2g 57 20 58 73 54
Muscular Dystrophy, Limb-Girdle, Type 2g 57 20 73 13
Limb-Girdle Muscular Dystrophy, Type 2g 20 6
Lgmdr7 57 73
Limb-Girdle Muscular Dystrophy Due to Telethonin Deficiency 58
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 58
Telethonin-Related Limb-Girdle Muscular Dystrophy R7 58
Muscular Dystrophy, Limb-Girdle, Type 2g; Lgmd2g 57
Dystrophy, Muscular, Limb-Girdle, Type 2g 39
Limb-Girdle Muscular Dystrophy Type 2g 58
Lgmd Due to Telethonin Deficiency 58
Limb-Girdle Muscular Dystrophy 2g 73
Telethonin-Related Lgmd R7 58
Lgmd Type 2g 58

Characteristics:

Orphanet epidemiological data:

58
telethonin-related limb-girdle muscular dystrophy r7
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
mean age at onset 12.5 years (range 2 to 15 years)
genetic heterogeneity, see lgmd2a
allelic disorder to dilated cardiomyopathy 1n (cmd1n, )


HPO:

31
muscular dystrophy, limb-girdle, autosomal recessive 7:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 601954
OMIM Phenotypic Series 57 PS253600
MeSH 44 D049288
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 72 C1866008
Orphanet 58 ORPHA34514
MedGen 41 C1866008

Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 34514DefinitionA mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.Visit the Orphanet disease page for more resources.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7, also known as lgmd2g, is related to autosomal recessive limb-girdle muscular dystrophy type 2g and foot drop. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 is TCAP (Titin-Cap), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. Affiliated tissues include skeletal muscle, and related phenotypes are elevated serum creatine kinase and rimmed vacuoles

UniProtKB/Swiss-Prot : 73 Muscular dystrophy, limb-girdle, autosomal recessive 7: An autosomal recessive degenerative myopathy characterized by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy, and absence of telethonin. Cardiac muscle is involved in a subset of patients.

More information from OMIM: 601954 PS253600

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
Autosomal Dominant Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Limb-Girdle Muscular Dystrophy Type 1a Limb-Girdle Muscular Dystrophy Type 1b
Limb-Girdle Muscular Dystrophy Type 1c Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2g 30.6 TTN TCAP MYOT FKRP DYSF CAPN3
2 foot drop 29.9 TTN MYOT DYSF
3 muscle hypertrophy 29.1 TTN FKRP DMD
4 muscular dystrophy, duchenne type 29.0 TTN TCAP DYSF DMD
5 muscular dystrophy, congenital, lmna-related 28.3 TTN TCAP MYOT FKRP DYSF DMD
6 muscular dystrophy, limb-girdle, autosomal recessive 4 28.3 TTN TRIM32 TCAP FKRP DYSF CAPN3
7 muscular dystrophy, limb-girdle, autosomal recessive 8 28.3 TTN TRIM32 TCAP FKRP DYSF CAPN3
8 limb-girdle muscular dystrophy 28.1 TTN TRIM32 TCAP MYOT FKRP DYSF
9 muscular dystrophy, limb-girdle, autosomal recessive 6 27.9 TTN TRIM32 TCAP FKRP DYSF DMD
10 muscular dystrophy 27.7 TTN TRIM32 TCAP MYOT FKRP DYSF
11 autosomal recessive limb-girdle muscular dystrophy 27.4 TTN TRIM32 TCAP MYOT FKRP DYSF
12 myopathy 27.4 TTN TRIM32 TCAP MYOT FKRP DYSF
13 muscular dystrophy, limb-girdle, autosomal recessive 2 27.4 TTN TRIM32 TCAP MYOT FKRP DYSF
14 hypertrophic cardiomyopathy 10.3
15 localized lipodystrophy 10.1 DYSF DMD
16 autosomal recessive limb-girdle muscular dystrophy type 2q 10.1 TCAP MYOT
17 dysferlinopathy 10.1 DYSF CAPN3
18 myopathy, myofibrillar, 4 10.1 TCAP MYOT
19 autosomal recessive limb-girdle muscular dystrophy type 2x 10.0 MYOT DYSF
20 myopathy, spheroid body 10.0 TCAP MYOT
21 muscular dystrophy-dystroglycanopathy , type c, 9 10.0 MYOT DYSF
22 miyoshi muscular dystrophy 3 10.0 DYSF CAPN3
23 limb-girdle muscular dystrophy type 1c 10.0 FKRP DYSF
24 autosomal dominant distal myopathy 10.0 MYOT DMD
25 cardiomyopathy, dilated, 3b 10.0 DYSF DMD
26 paresthesia 10.0 FKRP CAPN3
27 muscular dystrophy-dystroglycanopathy , type c, 2 9.9 FKRP CAPN3
28 muscular dystrophy-dystroglycanopathy , type c, 1 9.9 MYOT FKRP
29 cobblestone lissencephaly 9.9 FKRP DMD
30 muscular dystrophy, limb-girdle, autosomal recessive 1 9.9
31 muscular dystrophy, limb-girdle, autosomal recessive 5 9.9
32 muscular dystrophy, limb-girdle, autosomal recessive 3 9.9
33 creatine phosphokinase, elevated serum 9.9 TCAP DMD CAPN3
34 cardioneuromyopathy with hyaline masses and nemaline rods 9.8 TTN DMD
35 muscular dystrophy, limb-girdle, autosomal dominant 1 9.8 MYOT DYSF CAPN3
36 congenital muscular dystrophy-dystroglycanopathy type a 9.8 FKRP DMD
37 reducing body myopathy 9.8 TTN DMD
38 muscular dystrophy-dystroglycanopathy 9.8 FKRP DYSF DMD
39 muscular dystrophy, congenital merosin-deficient, 1a 9.7 FKRP DYSF DMD
40 hyaline body myopathy 9.7 TTN MYOT
41 muscular dystrophy-dystroglycanopathy , type a, 4 9.7 FKRP DMD
42 polyglucosan body myopathy 1 with or without immunodeficiency 9.7 FKRP DMD CAPN3
43 cardiomyopathy, familial hypertrophic, 4 9.7 TTN DMD
44 congenital structural myopathy 9.7 TTN MYOT
45 autosomal dominant limb-girdle muscular dystrophy 9.7 TCAP MYOT DYSF CAPN3
46 intrinsic cardiomyopathy 9.6 TTN TCAP DMD
47 batten-turner congenital myopathy 9.6 TTN DYSF DMD
48 centronuclear myopathy 9.6 TTN DYSF DMD
49 myopathy, myofibrillar, 5 9.6 TTN MYOT DMD
50 respiratory failure 9.5 TTN FKRP DMD

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine kinase 31 HP:0003236
2 rimmed vacuoles 31 HP:0003805
3 proximal upper limb amyotrophy 31 HP:0008948
4 proximal muscle weakness in lower limbs 31 HP:0008994
5 proximal muscle weakness in upper limbs 31 HP:0008997
6 distal lower limb muscle weakness 31 HP:0009053
7 muscular dystrophy 31 HP:0003560
8 calf muscle hypertrophy 31 HP:0008981
9 difficulty walking 31 HP:0002355
10 increased variability in muscle fiber diameter 31 HP:0003557
11 foot dorsiflexor weakness 31 HP:0009027
12 distal lower limb amyotrophy 31 HP:0008944
13 difficulty climbing stairs 31 HP:0003551
14 increased connective tissue 31 HP:0009025
15 areflexia of lower limbs 31 HP:0002522
16 difficulty running 31 HP:0009046

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Muscle Soft Tissue:
rimmed vacuoles
proximal muscle weakness in lower limbs
proximal muscle weakness in upper limbs
difficulty climbing stairs
increased connective tissue
more
Cardiovascular Heart:
cardiac muscle is involved in a subset of patients

Laboratory Abnormalities:
increased serum creatine kinase
creatine kinase levels may normalize with disease progression

Clinical features from OMIM®:

601954 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 CAPN3 DMD DYSF FKRP TCAP TRIM32
2 muscle MP:0005369 9.5 CAPN3 DMD DYSF FKRP TCAP TRIM32
3 normal MP:0002873 9.02 CAPN3 DMD FKRP MYOT TTN

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

40
Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

(show all 28)
# Title Authors PMID Year
1
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. 6 57
10655062 2000
2
Functional muscle analysis of the Tcap knockout mouse. 61 57 54
20233748 2010
3
Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly. 61 54 57
19679566 2009
4
The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. 57 61
9245996 1997
5
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 57
30055862 2018
6
Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient. 61 54
18948002 2008
7
TCAP knockdown by RNA interference inhibits myoblast differentiation in cultured skeletal muscle cells. 61 54
18440815 2008
8
[Limb girdle muscular dystrophies]. 54 61
15316618 2004
9
Molecular bases of autosomal recessive limb-girdle muscular dystrophies. 54 61
14959561 2003
10
Telethonin protein expression in neuromuscular disorders. 61 54
12379311 2002
11
Dysferlin protein analysis in limb-girdle muscular dystrophies. 61 54
11665864 2001
12
Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G. 61 54
10069710 1999
13
Distal myopathy due to TCAP variants in four unrelated Chinese patients. 61
32761539 2020
14
Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy. 61
31268554 2019
15
Precise therapeutic gene correction by a simple nuclease-induced double-stranded break. 61
30944467 2019
16
Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation. 61
29935994 2018
17
Corrigendum to 'Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient' [Neuromuscular Disorders 27 (2017) 856-860]. 61
29074295 2017
18
Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient. 61
28666572 2017
19
Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience. 61
26060040 2016
20
A prospective study on the immunophenotypic characterization of limb girdle muscular dystrophies 2 in India. 61
26238890 2015
21
Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G. 61
25724973 2015
22
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 61
24843229 2014
23
Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G. 61
25055047 2014
24
Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern. 61
25298746 2014
25
Muscle phenotypic variability in limb girdle muscular dystrophy 2 G. 61
23479141 2013
26
A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. 61
23414517 2013
27
Transcriptional analysis of the titin cap gene. 61
21305318 2011
28
[LGMD2G]. 61
11556000 2001

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

6 (show all 30)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TCAP NM_003673.4(TCAP):c.157C>T (p.Gln53Ter) SNV Pathogenic 5525 rs104894655 17:37822015-37822015 17:39665762-39665762
2 TCAP NM_003673.3(TCAP):c.110_110+1del Deletion Pathogenic 5526 rs786205076 17:37821720-37821721 17:39665467-39665468
3 TCAP NM_003673.3(TCAP):c.32C>A (p.Ser11Ter) SNV Likely pathogenic 140582 rs45495192 17:37821644-37821644 17:39665391-39665391
4 TCAP NM_003673.3(TCAP):c.25_31dup (p.Ser11Ter) Duplication Likely pathogenic 217014 rs863224933 17:37821636-37821637 17:39665383-39665384
5 TCAP NM_003673.4(TCAP):c.75G>A (p.Trp25Ter) SNV Likely pathogenic 813977 rs778851652 17:37821687-37821687 17:39665434-39665434
6 TCAP NM_003673.3(TCAP):c.34dup (p.Glu12fs) Duplication Likely pathogenic 522598 rs1555606959 17:37821644-37821645 17:39665391-39665392
7 TCAP NM_003673.3(TCAP):c.113G>T (p.Cys38Phe) SNV Uncertain significance 202108 rs375310569 17:37821971-37821971 17:39665718-39665718
8 TCAP NM_003673.3(TCAP):c.111-13C>A SNV Uncertain significance 323045 rs773913117 17:37821956-37821956 17:39665703-39665703
9 TCAP NM_003673.4(TCAP):c.60C>G (p.Ala20=) SNV Uncertain significance 44714 rs146502276 17:37821672-37821672 17:39665419-39665419
10 TCAP NM_003673.4(TCAP):c.388C>T (p.Arg130Cys) SNV Uncertain significance 44708 rs374886575 17:37822246-37822246 17:39665993-39665993
11 TCAP NM_003673.4(TCAP):c.*54G>A SNV Uncertain significance 889706 17:37822416-37822416 17:39666163-39666163
12 TCAP NM_003673.4(TCAP):c.*128G>A SNV Uncertain significance 889707 17:37822490-37822490 17:39666237-39666237
13 TCAP NM_003673.4(TCAP):c.*199G>T SNV Uncertain significance 889708 17:37822561-37822561 17:39666308-39666308
14 TCAP NM_003673.4(TCAP):c.32C>T (p.Ser11Leu) SNV Uncertain significance 177939 rs45495192 17:37821644-37821644 17:39665391-39665391
15 TCAP NM_003673.4(TCAP):c.*395C>T SNV Uncertain significance 891260 17:37822757-37822757 17:39666504-39666504
16 TCAP NM_003673.3(TCAP):c.282C>T (p.Phe94=) SNV Uncertain significance 464947 rs749565002 17:37822140-37822140 17:39665887-39665887
17 TCAP NM_003673.3(TCAP):c.313G>A (p.Glu105Lys) SNV Uncertain significance 288969 rs146906267 17:37822171-37822171 17:39665918-39665918
18 TCAP NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) SNV Uncertain significance 191776 rs146906267 17:37822171-37822171 17:39665918-39665918
19 TCAP NM_003673.4(TCAP):c.*418C>T SNV Uncertain significance 892449 17:37822780-37822780 17:39666527-39666527
20 TCAP NM_003673.3(TCAP):c.223G>A (p.Gly75Ser) SNV Uncertain significance 202111 rs753744791 17:37822081-37822081 17:39665828-39665828
21 TCAP NM_003673.3(TCAP):c.389G>A (p.Arg130His) SNV Uncertain significance 195199 rs147503632 17:37822247-37822247 17:39665994-39665994
22 TCAP NM_003673.4(TCAP):c.458G>A (p.Arg153His) SNV Uncertain significance 44710 rs149585781 17:37822316-37822316 17:39666063-39666063
23 TCAP NM_003673.3(TCAP):c.111-13C>T SNV Uncertain significance 323046 rs773913117 17:37821956-37821956 17:39665703-39665703
24 TCAP NM_003673.3(TCAP):c.*76G>T SNV Uncertain significance 323047 rs45506294 17:37822438-37822438 17:39666185-39666185
25 TCAP NM_003673.3(TCAP):c.*292G>A SNV Uncertain significance 323048 rs185210946 17:37822654-37822654 17:39666401-39666401
26 TCAP NM_003673.3(TCAP):c.*297C>T SNV Uncertain significance 323049 rs772638575 17:37822659-37822659 17:39666406-39666406
27 TCAP NM_003673.3(TCAP):c.*377G>C SNV Benign 323050 rs3194794 17:37822739-37822739 17:39666486-39666486
28 TCAP NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) SNV Benign 44706 rs45578741 17:37822174-37822174 17:39665921-39665921
29 TCAP NM_003673.4(TCAP):c.453A>C (p.Ala151=) SNV Benign 44709 rs1053651 17:37822311-37822311 17:39666058-39666058
30 TCAP NM_003673.3(TCAP):c.421C>G (p.Pro141Ala) SNV not provided 180535 rs45509691 17:37822279-37822279 17:39666026-39666026

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Cellular components related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 T-tubule GO:0030315 9.32 DYSF CAPN3
2 myofibril GO:0030016 9.26 DMD CAPN3
3 sarcolemma GO:0042383 9.26 MYOT FKRP DYSF DMD
4 I band GO:0031674 9.16 TTN TCAP
5 Z disc GO:0030018 9.02 TTN TCAP MYOT DMD CAPN3

Biological processes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.65 TTN MYOT DYSF
2 response to calcium ion GO:0051592 9.56 TTN CAPN3
3 positive regulation of proteolysis GO:0045862 9.55 TRIM32 CAPN3
4 response to muscle stretch GO:0035994 9.54 TCAP DMD
5 cardiac muscle tissue morphogenesis GO:0055008 9.52 TTN TCAP
6 cardiac myofibril assembly GO:0055003 9.51 TTN TCAP
7 cardiac muscle hypertrophy GO:0003300 9.49 TTN TCAP
8 cardiac muscle fiber development GO:0048739 9.46 TTN TCAP
9 detection of muscle stretch GO:0035995 9.43 TTN TCAP
10 cardiac muscle contraction GO:0060048 9.43 TTN TCAP DMD
11 skeletal muscle thin filament assembly GO:0030240 9.4 TTN TCAP
12 sarcomerogenesis GO:0048769 9.37 TTN TCAP
13 muscle filament sliding GO:0030049 9.33 TTN TCAP DMD
14 skeletal muscle myosin thick filament assembly GO:0030241 9.32 TTN TCAP
15 sarcomere organization GO:0045214 9.13 TTN TCAP CAPN3
16 muscle cell cellular homeostasis GO:0046716 8.8 TRIM32 DMD CAPN3

Molecular functions related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein self-association GO:0043621 9.32 TTN TRIM32
2 myosin binding GO:0017022 9.26 TRIM32 DMD
3 titin binding GO:0031432 9.16 TCAP CAPN3
4 structural constituent of muscle GO:0008307 9.02 TTN TCAP MYOT DMD CAPN3
5 dystroglycan binding GO:0002162 8.96 FKRP DMD

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....