MCID: ATS331
MIFTS: 38

Autosomal Recessive Limb-Girdle Muscular Dystrophy

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

Aliases & Classifications for Autosomal Recessive Limb-Girdle Muscular Dystrophy

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

Name: Autosomal Recessive Limb-Girdle Muscular Dystrophy 12 58 15
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 54
Limb-Girdle Muscular Dystrophy, Autosomal Recessive 29

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110274
ICD10 32 G71.0
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 72 C2931907
Orphanet 58 ORPHA102015

Summaries for Autosomal Recessive Limb-Girdle Muscular Dystrophy

Disease Ontology : 12 A limb-girdle muscular dystrophy has material basis in autosomal recessive inheritance.

MalaCards based summary : Autosomal Recessive Limb-Girdle Muscular Dystrophy, also known as muscular dystrophy, limb-girdle, autosomal recessive, is related to autosomal recessive limb-girdle muscular dystrophy type 2w and autosomal recessive limb-girdle muscular dystrophy type 2x. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy is DYSF (Dysferlin), and among its related pathways/superpathways are Cardiac conduction and Allograft rejection. Affiliated tissues include skeletal muscle, eye and brain, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Autosomal Recessive Limb-Girdle Muscular Dystrophy

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
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 Autosomal Recessive Limb-Girdle Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 128)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2w 34.8 TRAPPC11 POGLUT1 ANO5
2 autosomal recessive limb-girdle muscular dystrophy type 2x 34.4 PYROXD1 POGLUT1 DYSF CAV3 ANO5
3 autosomal recessive limb-girdle muscular dystrophy type 2q 34.1 TRAPPC11 TCAP PLEC DYSF CAV3 ANO5
4 muscular dystrophy-dystroglycanopathy , type c, 9 34.1 TRAPPC11 DYSF ANO5
5 muscular dystrophy-dystroglycanopathy , type c, 7 34.0 TRAPPC11 ANO5
6 muscular dystrophy-dystroglycanopathy , type c, 3 33.9 POMT1 FKRP ANO5
7 muscular dystrophy-dystroglycanopathy , type c, 14 33.9 TRAPPC11 DES ANO5
8 autosomal recessive limb-girdle muscular dystrophy type 2h 33.7 TRIM32 TCAP SGCG SGCD FKRP DYSF
9 muscular dystrophy-dystroglycanopathy , type c, 1 33.7 TRIM32 SGCD POMT1 FKRP ANO5
10 autosomal recessive limb-girdle muscular dystrophy type 2f 33.7 SGCG SGCD SGCA FKRP DYSF DMD
11 autosomal recessive limb-girdle muscular dystrophy type 2j 33.7 TRIM32 TCAP SGCG SGCD SGCA FKRP
12 muscular dystrophy, limb-girdle, autosomal recessive 8 33.6 TRIM32 TCAP FKRP DYSF CAPN3
13 muscular dystrophy-dystroglycanopathy , type c, 2 33.5 TRAPPC11 POMT1 FKRP ANO5
14 muscular dystrophy-dystroglycanopathy , type c, 4 33.5 TRIM32 POMT1 FKRP DYSF CAPN3 ANO5
15 autosomal recessive limb-girdle muscular dystrophy type 2d 33.3 TCAP SGCG SGCD SGCA LAMA2 FKRP
16 muscular dystrophy, limb-girdle, autosomal recessive 7 33.3 TRIM32 TCAP FKRP DYSF DMD CAPN3
17 autosomal recessive limb-girdle muscular dystrophy type 2l 33.3 TCAP SGCG SGCD SGCA POMT1 FKRP
18 autosomal recessive limb-girdle muscular dystrophy type 2g 33.2 TRIM32 TCAP SGCG SGCD SGCA FKRP
19 autosomal recessive limb-girdle muscular dystrophy type 2c 33.2 TCAP SGCG SGCD SGCA LAMA2 FKRP
20 myopathy, myofibrillar, 1 33.1 PLEC DMD DES
21 autosomal recessive limb-girdle muscular dystrophy type 2b 33.0 TCAP SGCG SGCD SGCA LAMA2 FKRP
22 muscular dystrophy, limb-girdle, autosomal recessive 6 32.8 TRIM32 TCAP SGCG SGCD SGCA FKRP
23 autosomal recessive limb-girdle muscular dystrophy type 2a 32.7 TRIM32 TCAP SGCG SGCD SGCA LAMA2
24 muscular dystrophy-dystroglycanopathy , type c, 5 32.7 TRIM32 TCAP SGCG SGCA POMT1 LAMA2
25 ullrich congenital muscular dystrophy 1 32.4 SGCA LAMA2 FKRP DYSF DMD COL6A1
26 muscular dystrophy, limb-girdle, autosomal recessive 2 32.1 TRIM32 TRAPPC11 TCAP SGCG SGCD SGCA
27 dysferlinopathy 31.0 DYSF CAPN3
28 muscular dystrophy, duchenne type 30.8 TCAP SGCD SGCA LAMA2 DMD CAV3
29 autosomal dominant limb-girdle muscular dystrophy 30.8 CAV3 CAPN3 ANO5
30 rippling muscle disease 2 30.7 FKRP DYSF CAV3
31 ablepharon-macrostomia syndrome 30.5 POMT1 FKRP
32 muscular dystrophy-dystroglycanopathy , type a, 4 30.4 POMT1 LAMA2 FKRP DYSF DMD
33 hypertrophic cardiomyopathy 30.3 TCAP SGCD DMD DES CAV3
34 muscular dystrophy, becker type 29.6 SGCG SGCD SGCA LAMA2 FKRP DYSF
35 neuromuscular disease 29.4 TCAP LAMA2 GNE FKRP DYSF DMD
36 myofibrillar myopathy 29.2 TCAP PYROXD1 PLEC GNE DYSF DMD
37 muscular dystrophy, congenital, lmna-related 29.2 TRAPPC11 POMT1 PLEC LAMA2 FKRP DYSF
38 limb-girdle muscular dystrophy 29.2 TRIM32 TRAPPC11 TCAP SGCG SGCD SGCA
39 miyoshi muscular dystrophy 29.2 TCAP SGCA GNE FKRP DYSF DMD
40 myopathy 28.9 TRIM32 TCAP SGCA PYROXD1 LAMA2 GNE
41 walker-warburg syndrome 28.4 TRAPPC11 SGCG SGCD SGCA POMT1 PLEC
42 muscular dystrophy 27.8 TRIM32 TRAPPC11 TCAP SGCG SGCD SGCA
43 obsolete: autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement 12.7
44 muscular dystrophy, limb-girdle, autosomal recessive 17 12.6
45 muscular dystrophy, limb-girdle, autosomal recessive 3 12.5
46 muscular dystrophy, limb-girdle, autosomal recessive 1 12.4
47 muscular dystrophy, limb-girdle, autosomal recessive 25 12.3
48 muscular dystrophy, limb-girdle, autosomal recessive 18 12.2
49 muscular dystrophy, limb-girdle, autosomal recessive 21 12.2
50 muscular dystrophy, limb-girdle, autosomal recessive 5 12.1

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



Diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy

Symptoms & Phenotypes for Autosomal Recessive Limb-Girdle Muscular Dystrophy

GenomeRNAi Phenotypes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.19 CAPN3
2 Decreased viability GR00221-A-1 10.19 GNE
3 Decreased viability GR00221-A-3 10.19 GNE
4 Decreased viability GR00221-A-4 10.19 DYSF GNE
5 Decreased viability GR00240-S-1 10.19 TCAP
6 Decreased viability GR00301-A 10.19 DYSF
7 Decreased viability GR00381-A-1 10.19 FKRP LAMA2 POGLUT1 SGCA TRIM32
8 Decreased viability GR00381-A-2 10.19 POGLUT1
9 Decreased viability GR00381-A-3 10.19 POGLUT1
10 Decreased viability GR00402-S-2 10.19 ANO5 CAPN3 CAV3 COL6A1 DES DMD
11 no effect GR00402-S-1 9.62 ANO5 CAPN3 CAV3 COL6A1 DES DMD

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ANO5 DES DMD DYSF FKRP GNE
2 cardiovascular system MP:0005385 9.97 CAPN3 CAV3 DES DMD FKRP GNE
3 homeostasis/metabolism MP:0005376 9.83 ANO5 CAPN3 CAV3 DES DMD DYSF
4 muscle MP:0005369 9.55 ANO5 CAPN3 CAV3 COL6A1 DES DMD

Drugs & Therapeutics for Autosomal Recessive Limb-Girdle Muscular Dystrophy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Study of Cardiac Magnetic Resonance in Patients With Muscular Dystrophy Recruiting NCT02921321
2 A Pilot Study of Cardiac Magnetic Resonance in Patients With Muscular Dystrophy Terminated NCT01633242

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

Genetic Tests for Autosomal Recessive Limb-Girdle Muscular Dystrophy

Genetic tests related to Autosomal Recessive Limb-Girdle Muscular Dystrophy:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Autosomal Recessive 29

Anatomical Context for Autosomal Recessive Limb-Girdle Muscular Dystrophy

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

40
Skeletal Muscle, Eye, Brain, Lung, Tongue

Publications for Autosomal Recessive Limb-Girdle Muscular Dystrophy

Articles related to Autosomal Recessive Limb-Girdle Muscular Dystrophy:

(show top 50) (show all 93)
# Title Authors PMID Year
1
Recombinant adeno-associated virus type 8-mediated extensive therapeutic gene delivery into skeletal muscle of alpha-sarcoglycan-deficient mice. 54 61
18578595 2008
2
Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay. 54 61
17979987 2007
3
Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonance. 54 61
16786213 2006
4
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum. 54 61
14647208 2003
5
The third human FER-1-like protein is highly similar to dysferlin. 54 61
10995573 2000
6
Recent advances in diagnosis of the childhood muscular dystrophies. 54 61
9259292 1997
7
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. 54 61
8968750 1996
8
Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region. 54 61
7665169 1995
9
Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10. 61
31830914 2019
10
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy. 61
31610034 2019
11
Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy. 61
31268554 2019
12
Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10. 61
31664938 2019
13
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients. 61
30919934 2019
14
Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients. 61
30764848 2019
15
Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation. 61
29935994 2018
16
Calpain 3 and CaMKII╬▓ signaling are required to induce HSP70 necessary for adaptive muscle growth after atrophy. 61
29528394 2018
17
[Coincidence of hereditary motor and sensory neuropathy type 1A and limb girdle muscular dystrophy type 2A]. 61
30585608 2018
18
Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy. 61
28104817 2017
19
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. 61
27807076 2016
20
TRIM32 ubiquitin E3 ligase, one enzyme for several pathologies: From muscular dystrophy to tumours. 61
27458054 2016
21
LGMD2D syndrome: the importance of clinical and molecular genetics in patient and family management. Case Report. 61
27857043 2016
22
Limb-girdle muscular dystrophy type 2A in Brazilian children. 61
26677118 2015
23
Limb-girdle muscular dystrophy type 2a with mutation in CAPN3: the first report in Taiwan. 61
23597518 2015
24
Limb Girdle Muscular Dystrophy (LGMD): Case Report. 61
25738022 2015
25
Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy. 61
25560911 2015
26
Common recessive limb girdle muscular dystrophies differential diagnosis: why and how? 61
25252238 2014
27
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. 61
23687351 2013
28
Dysferlinopathy: spectrum of pathological changes in skeletal muscle tissue. 61
21623088 2011
29
Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. 61
20961758 2011
30
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. 61
21109228 2010
31
[Autosomal recessive limb-girdle muscular dystrophy]. 61
20925031 2010
32
Normal vaginal delivery in a patient with autosomal recessive limb-girdle muscular dystrophy. 61
27582849 2010
33
Functional muscle analysis of the Tcap knockout mouse. 61
20233748 2010
34
Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle. 61
19483197 2009
35
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? 61
18996010 2008
36
Phenotypic variability in siblings with calpainopathy (LGMD2A). 61
19364062 2008
37
Therapeutic possibilities in the autosomal recessive limb-girdle muscular dystrophies. 61
19019315 2008
38
Revised spectrum of mutations in sarcoglycanopathies. 61
18285821 2008
39
Anaesthetic management of a woman with autosomal recessive limb-girdle muscular dystrophy for emergency caesarean section. 61
17643284 2007
40
Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients. 61
17702496 2007
41
A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. 61
17008331 2007
42
Structural and functional analysis of the sarcoglycan-sarcospan subcomplex. 61
17223103 2007
43
Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy. 61
16730439 2006
44
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. 54
15726252 2005
45
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. 61
15792865 2005
46
Epsilon-sarcoglycan compensates for lack of alpha-sarcoglycan in a mouse model of limb-girdle muscular dystrophy. 61
15689353 2005
47
[Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family]. 61
15884399 2005
48
Clinical and pathological characteristics of four Korean patients with limb-girdle muscular dystrophy type 2B. 61
15201514 2004
49
Late-onset autosomal recessive limb-girdle muscular dystrophy with rimmed vacuoles. 61
15003303 2004
50
Specific assembly pathway of sarcoglycans is dependent on beta- and delta-sarcoglycan. 61
14981741 2004

Variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy

Copy number variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 92418 15 40427592 40491807 Genomic rearrangement CAPN3 Autosomal-recessive limb girdle muscular dystrophy
2 147894 2 71534267 71767401 Deletion DYSF Autosomal-recessive limb girdle muscular dystrophy

Expression for Autosomal Recessive Limb-Girdle Muscular Dystrophy

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

Pathways for Autosomal Recessive Limb-Girdle Muscular Dystrophy

Pathways related to Autosomal Recessive Limb-Girdle Muscular Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.49 TCAP DYSF DMD DES CAV3
2
Show member pathways
12.46 SGCG SGCD SGCA LAMA2 DMD
3
Show member pathways
12.21 PLEC LAMA2 DMD COL6A1 CAPN3
4
Show member pathways
11.7 SGCG SGCD SGCA LAMA2 DMD DES
5 11.29 TCAP DMD DES
6
Show member pathways
11.29 SGCG SGCD SGCA LAMA2 DMD DES
7 10.79 POMT1 FKRP
8 10.68 LAMA2 DMD

GO Terms for Autosomal Recessive Limb-Girdle Muscular Dystrophy

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

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.72 TCAP DMD DES CAV3 CAPN3
2 neuromuscular junction GO:0031594 9.58 LAMA2 DES CAV3
3 T-tubule GO:0030315 9.54 DYSF CAV3 CAPN3
4 costamere GO:0043034 9.46 PLEC DMD
5 contractile fiber GO:0043292 9.43 PLEC DES
6 sarcoglycan complex GO:0016012 9.43 SGCG SGCD SGCA
7 sarcolemma GO:0042383 9.36 SGCG SGCD SGCA PLEC LAMA2 FKRP
8 dystroglycan complex GO:0016011 9.33 SGCG SGCD SGCA
9 dystrophin-associated glycoprotein complex GO:0016010 9.26 SGCD SGCA DMD CAV3

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.61 TCAP SGCD DMD
2 cardiac muscle tissue development GO:0048738 9.59 SGCG SGCD
3 positive regulation of proteolysis GO:0045862 9.58 TRIM32 CAPN3
4 protein O-linked mannosylation GO:0035269 9.58 POMT1 FKRP
5 muscle fiber development GO:0048747 9.57 DYSF DMD
6 response to muscle stretch GO:0035994 9.56 TCAP DMD
7 muscle contraction GO:0006936 9.56 SGCA DYSF DES CAV3
8 heart contraction GO:0060047 9.55 SGCG SGCD
9 cardiac muscle fiber development GO:0048739 9.54 TCAP SGCD
10 plasma membrane repair GO:0001778 9.52 DYSF CAV3
11 response to denervation involved in regulation of muscle adaptation GO:0014894 9.51 SGCA DMD
12 muscle filament sliding GO:0030049 9.5 TCAP DMD DES
13 regulation of calcium ion import GO:0090279 9.49 DYSF CAV3
14 nucleus localization GO:0051647 9.48 DMD CAV3
15 T-tubule organization GO:0033292 9.46 DYSF CAV3
16 detection of muscle stretch GO:0035995 9.4 TCAP CAV3
17 regulation of skeletal muscle contraction GO:0014819 9.37 DMD CAV3
18 skeletal muscle tissue regeneration GO:0043403 9.33 SGCA DYSF DMD
19 muscle cell cellular homeostasis GO:0046716 9.26 TRIM32 DMD CAV3 CAPN3
20 muscle organ development GO:0007517 9.17 SGCG SGCD SGCA LAMA2 DMD CAV3

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.5 PLEC DMD DES
2 nitric-oxide synthase binding GO:0050998 9.26 DMD CAV3
3 titin binding GO:0031432 9.16 TCAP CAPN3
4 dystroglycan binding GO:0002162 8.96 FKRP DMD
5 structural constituent of muscle GO:0008307 8.92 TCAP PLEC DMD CAPN3

Sources for Autosomal Recessive Limb-Girdle Muscular Dystrophy

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
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