LGMDD2
MCID: MSC178
MIFTS: 36

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 (LGMDD2)

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 58 76
Lgmd1f 58 12 54 60 76
Muscular Dystrophy, Limb-Girdle, Type 1f 58 54 76 13
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f 12 54 60
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 2 12 15
Limb-Girdle Muscular Dystrophy, Type 1f 30 6
Lgmdd2 58 76
Muscular Dystrophy, Limb-Girdle, Type 1f; Lgmd1f 58
Dystrophy, Muscular, Limb-Girdle, Type 1f 41
Muscular Dystrophy Limb-Girdle Type 1f 12
Limb-Girdle Muscular Dystrophy Type 1f 54
Limb-Girdle Muscular Dystrophy 1f 76

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant limb-girdle muscular dystrophy type 1f
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Infancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
clinical variability
variable progression
some patients may become wheelchair-bound
juvenile-onset (before 15 years of age)
adult-onset in third to fourth decade
one large spanish family and 1 unrelated patient have been reported (last curated june 2014)


HPO:

33
muscular dystrophy, limb-girdle, autosomal dominant 2:
Onset and clinical course adult onset juvenile onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110304
OMIM 58 608423
MeSH 45 D049288
ICD10 34 G71.0
ICD10 via Orphanet 35 G71.0
UMLS via Orphanet 75 C1842062
Orphanet 60 ORPHA55595
MedGen 43 C1842062

Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

OMIM : 58 Autosomal dominant limb-girdle muscular dystrophy-2 is a myopathy characterized by proximal muscle weakness primarily affecting the lower limbs, but also affecting the upper limbs in most patients. Affected individuals also have distal muscle weakness of the hands and lower leg muscles. There is variability in presentation and progression. Some patients present in early childhood with mildly delayed walking and difficulty running and jumping, whereas others present as adults with mainly pelvic-girdle weakness. Patients with early onset tend to have a more severe disorder, and may develop contractures, loss of independent ambulation, and respiratory insufficiency. Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions (summary by Melia et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant limb-girdle muscular dystrophy, see LGMDD1 (603511). (608423)

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2, also known as lgmd1f, is related to limb-girdle muscular dystrophy and muscular dystrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 is TNPO3 (Transportin 3). Affiliated tissues include skeletal muscle, and related phenotypes are flexion contracture and respiratory insufficiency due to muscle weakness

Disease Ontology : 12 An autosomal dominant limb-girdle muscular dystrophy that has material basis in heterozygous mutation in the TNPO3 gene on chromosome 7q32.

UniProtKB/Swiss-Prot : 76 Muscular dystrophy, limb-girdle, autosomal dominant 2: An autosomal dominant myopathy characterized by proximal muscle weakness primarily affecting the lower limbs, but also affecting the upper limbs in most patients. Affected individuals also have distal muscle weakness of the hands and lower leg muscles. The disease has generally a benign clinical course but some individuals with childhood or juvenile onset manifest severe widespread myopathy, leading to wheelchair dependency and respiratory insufficiency. Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions.

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

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 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

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 limb-girdle muscular dystrophy 29.4 CAV3 DNAJB6 MYOT SGCB TNPO3
2 muscular dystrophy 28.8 CAV3 DNAJB6 LIMS2 MYOT SGCB TNPO3
3 myopathy, myofibrillar, 3 9.9 DNAJB6 MYOT
4 myopathy, spheroid body 9.9 DNAJB6 MYOT
5 myofibrillar myopathy 9.9 DNAJB6 MYOT
6 autosomal recessive limb-girdle muscular dystrophy type 2g 9.8 MYOT SGCB
7 miyoshi muscular dystrophy 9.8 CAV3 MYOT
8 autosomal recessive limb-girdle muscular dystrophy type 2j 9.8 MYOT SGCB
9 muscular dystrophy, limb-girdle, type 1h 9.8 DNAJB6 MYOT TNPO3
10 autosomal recessive limb-girdle muscular dystrophy type 2q 9.8 DNAJB6 MYOT TNPO3
11 autosomal recessive limb-girdle muscular dystrophy type 2h 9.8 MYOT SGCB
12 autosomal recessive limb-girdle muscular dystrophy type 2b 9.7 CAV3 SGCB
13 muscle tissue disease 9.7 CAV3 MYOT
14 autosomal recessive limb-girdle muscular dystrophy type 2a 9.6 DNAJB6 MYOT SGCB
15 muscular dystrophy, limb-girdle, autosomal recessive 2 9.5 CAV3 MYOT SGCB
16 autosomal dominant limb-girdle muscular dystrophy 9.5 CAV3 DNAJB6 MYOT TNPO3
17 muscular disease 9.2 CAV3 DNAJB6 MYOT SGCB
18 muscular dystrophy, limb-girdle, autosomal dominant 1 9.0 CAV3 DNAJB6 MYOT SGCB TNPO3

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2:



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 flexion contracture 33 occasional (7.5%) HP:0001371
2 respiratory insufficiency due to muscle weakness 33 occasional (7.5%) HP:0002747
3 spinal rigidity 33 occasional (7.5%) HP:0003306
4 abnormality of metabolism/homeostasis 33 HP:0001939
5 pallor 33 HP:0000980
6 emg: myopathic abnormalities 33 HP:0003458
7 scapular winging 33 HP:0003691
8 rimmed vacuoles 33 HP:0003805
9 pelvic girdle muscle weakness 33 HP:0003749
10 muscular dystrophy 33 HP:0003560
11 increased connective tissue 33 HP:0009025
12 difficulty running 33 HP:0009046
13 centrally nucleated skeletal muscle fibers 33 HP:0003687
14 shoulder girdle muscle weakness 33 HP:0003547
15 autophagic vacuoles 33 HP:0003736
16 late-onset distal muscle weakness 33 HP:0003810

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
rimmed vacuoles
increased connective tissue
shoulder girdle muscle weakness
autophagic vacuoles
proximal and distal muscle atrophy
more
Respiratory:
respiratory insufficiency due to muscle weakness (in some patients)

Neurologic Central Nervous System:
delayed walking, mild (in some patients)
abnormal gait due to muscle weakness

Skeletal:
joint contractures (in some patients)

Skeletal Spine:
rigid spine (in some patients)

Laboratory Abnormalities:
serum creatine kinase may be normal or elevated

Clinical features from OMIM:

608423

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 1f 30 TNPO3

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2:

42
Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2:

# Title Authors Year
1
Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient. ( 30567601 )
2018
2
Incomplete penetrance in the spanish family with limb-girdle muscular dystrophy type 1F. ( 26351998 )
2015
3
Incomplete penetrance in limb-girdle muscular dystrophy type 1F. ( 25487718 )
2015
4
No need for more muscle biopsies in members of the Spanish LGMD1F family. The gene has been identified at last. ( 23981253 )
2014
5
Ultrastructural changes in LGMD1F. ( 23279333 )
2013
6
Clinical phenotype, muscle MRI and muscle pathology of LGMD1F. ( 23632945 )
2013

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2:

76
# Symbol AA change Variation ID SNP ID
1 TNPO3 p.Arg818Pro VAR_071822 rs587777431

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2:

6 (show top 50) (show all 72)
# Gene Variation Type Significance SNP ID Assembly Location
1 TNPO3 NM_012470.3(TNPO3): c.2326A> G (p.Ile776Val) single nucleotide variant Uncertain significance rs368873021 GRCh37 Chromosome 7, 128612584: 128612584
2 TNPO3 NM_012470.3(TNPO3): c.2326A> G (p.Ile776Val) single nucleotide variant Uncertain significance rs368873021 GRCh38 Chromosome 7, 128972530: 128972530
3 TNPO3 NM_012470.3(TNPO3): c.2771delA (p.Ter924Cysfs) deletion Pathogenic rs587777430 GRCh37 Chromosome 7, 128597310: 128597310
4 TNPO3 NM_012470.3(TNPO3): c.2771delA (p.Ter924Cysfs) deletion Pathogenic rs587777430 GRCh38 Chromosome 7, 128957256: 128957256
5 TNPO3 NM_012470.3(TNPO3): c.2453G> C (p.Arg818Pro) single nucleotide variant Pathogenic rs587777431 GRCh37 Chromosome 7, 128610347: 128610347
6 TNPO3 NM_012470.3(TNPO3): c.2453G> C (p.Arg818Pro) single nucleotide variant Pathogenic rs587777431 GRCh38 Chromosome 7, 128970293: 128970293
7 TNPO3 NM_012470.3(TNPO3): c.2280T> C (p.Ile760=) single nucleotide variant Benign/Likely benign rs142359170 GRCh38 Chromosome 7, 128972576: 128972576
8 TNPO3 NM_012470.3(TNPO3): c.2280T> C (p.Ile760=) single nucleotide variant Benign/Likely benign rs142359170 GRCh37 Chromosome 7, 128612630: 128612630
9 TNPO3 NM_012470.3(TNPO3): c.2741C> T (p.Ala914Val) single nucleotide variant Conflicting interpretations of pathogenicity rs61756249 GRCh37 Chromosome 7, 128597340: 128597340
10 TNPO3 NM_012470.3(TNPO3): c.2741C> T (p.Ala914Val) single nucleotide variant Conflicting interpretations of pathogenicity rs61756249 GRCh38 Chromosome 7, 128957286: 128957286
11 TNPO3 NM_012470.3(TNPO3): c.2652C> T (p.Thr884=) single nucleotide variant Benign/Likely benign rs149434536 GRCh37 Chromosome 7, 128607393: 128607393
12 TNPO3 NM_012470.3(TNPO3): c.2652C> T (p.Thr884=) single nucleotide variant Benign/Likely benign rs149434536 GRCh38 Chromosome 7, 128967339: 128967339
13 TNPO3 NM_012470.3(TNPO3): c.275C> T (p.Thr92Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs61756250 GRCh37 Chromosome 7, 128658057: 128658057
14 TNPO3 NM_012470.3(TNPO3): c.275C> T (p.Thr92Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs61756250 GRCh38 Chromosome 7, 129018003: 129018003
15 TNPO3 NM_012470.3(TNPO3): c.2625C> T (p.Ser875=) single nucleotide variant Conflicting interpretations of pathogenicity rs201210726 GRCh37 Chromosome 7, 128607420: 128607420
16 TNPO3 NM_012470.3(TNPO3): c.2625C> T (p.Ser875=) single nucleotide variant Conflicting interpretations of pathogenicity rs201210726 GRCh38 Chromosome 7, 128967366: 128967366
17 TNPO3 NM_012470.3(TNPO3): c.2274-10delT deletion Benign/Likely benign rs539653012 GRCh37 Chromosome 7, 128612646: 128612646
18 TNPO3 NM_012470.3(TNPO3): c.2274-10delT deletion Benign/Likely benign rs539653012 GRCh38 Chromosome 7, 128972592: 128972592
19 TNPO3 NM_012470.3(TNPO3): c.2599-6A> G single nucleotide variant Conflicting interpretations of pathogenicity rs374776250 GRCh37 Chromosome 7, 128607452: 128607452
20 TNPO3 NM_012470.3(TNPO3): c.2599-6A> G single nucleotide variant Conflicting interpretations of pathogenicity rs374776250 GRCh38 Chromosome 7, 128967398: 128967398
21 TNPO3 NM_012470.3(TNPO3): c.234C> T (p.Leu78=) single nucleotide variant Conflicting interpretations of pathogenicity rs142268279 GRCh37 Chromosome 7, 128658098: 128658098
22 TNPO3 NM_012470.3(TNPO3): c.234C> T (p.Leu78=) single nucleotide variant Conflicting interpretations of pathogenicity rs142268279 GRCh38 Chromosome 7, 129018044: 129018044
23 TNPO3 NM_012470.3(TNPO3): c.2431-6A> C single nucleotide variant Benign/Likely benign rs190759031 GRCh37 Chromosome 7, 128610375: 128610375
24 TNPO3 NM_012470.3(TNPO3): c.2431-6A> C single nucleotide variant Benign/Likely benign rs190759031 GRCh38 Chromosome 7, 128970321: 128970321
25 TNPO3 NM_012470.3(TNPO3): c.2154G> T (p.Arg718=) single nucleotide variant Benign rs35060568 GRCh37 Chromosome 7, 128615897: 128615897
26 TNPO3 NM_012470.3(TNPO3): c.2154G> T (p.Arg718=) single nucleotide variant Benign rs35060568 GRCh38 Chromosome 7, 128975843: 128975843
27 TNPO3 NM_012470.3(TNPO3): c.2186G> C (p.Cys729Ser) single nucleotide variant Uncertain significance rs757809379 GRCh37 Chromosome 7, 128615009: 128615009
28 TNPO3 NM_012470.3(TNPO3): c.2186G> C (p.Cys729Ser) single nucleotide variant Uncertain significance rs757809379 GRCh38 Chromosome 7, 128974955: 128974955
29 TNPO3 NM_012470.3(TNPO3): c.1927C> T (p.Pro643Ser) single nucleotide variant Uncertain significance rs1400881026 GRCh37 Chromosome 7, 128619171: 128619171
30 TNPO3 NM_012470.3(TNPO3): c.1927C> T (p.Pro643Ser) single nucleotide variant Uncertain significance rs1400881026 GRCh38 Chromosome 7, 128979117: 128979117
31 TNPO3 NM_012470.3(TNPO3): c.1409C> T (p.Pro470Leu) single nucleotide variant Uncertain significance rs137891112 GRCh37 Chromosome 7, 128630104: 128630104
32 TNPO3 NM_012470.3(TNPO3): c.1409C> T (p.Pro470Leu) single nucleotide variant Uncertain significance rs137891112 GRCh38 Chromosome 7, 128990050: 128990050
33 TNPO3 NM_012470.3(TNPO3): c.232C> G (p.Leu78Val) single nucleotide variant Uncertain significance rs1554441599 GRCh38 Chromosome 7, 129018046: 129018046
34 TNPO3 NM_012470.3(TNPO3): c.232C> G (p.Leu78Val) single nucleotide variant Uncertain significance rs1554441599 GRCh37 Chromosome 7, 128658100: 128658100
35 TNPO3 NM_012470.3(TNPO3): c.1410G> A (p.Pro470=) single nucleotide variant Uncertain significance rs747683065 GRCh38 Chromosome 7, 128990049: 128990049
36 TNPO3 NM_012470.3(TNPO3): c.1410G> A (p.Pro470=) single nucleotide variant Uncertain significance rs747683065 GRCh37 Chromosome 7, 128630103: 128630103
37 TNPO3 NM_012470.3(TNPO3): c.1256G> A (p.Cys419Tyr) single nucleotide variant Uncertain significance rs1554438680 GRCh37 Chromosome 7, 128633871: 128633871
38 TNPO3 NM_012470.3(TNPO3): c.1256G> A (p.Cys419Tyr) single nucleotide variant Uncertain significance rs1554438680 GRCh38 Chromosome 7, 128993817: 128993817
39 TNPO3 NM_012470.3(TNPO3): c.1873A> G (p.Ile625Val) single nucleotide variant Uncertain significance rs1480719788 GRCh38 Chromosome 7, 128980018: 128980018
40 TNPO3 NM_012470.3(TNPO3): c.1873A> G (p.Ile625Val) single nucleotide variant Uncertain significance rs1480719788 GRCh37 Chromosome 7, 128620072: 128620072
41 TNPO3 NM_012470.3(TNPO3): c.1256delGinsAA (p.Cys419Terfs) indel Uncertain significance rs1554438685 GRCh37 Chromosome 7, 128633871: 128633871
42 TNPO3 NM_012470.3(TNPO3): c.1256delGinsAA (p.Cys419Terfs) indel Uncertain significance rs1554438685 GRCh38 Chromosome 7, 128993817: 128993817
43 TNPO3 NM_012470.3(TNPO3): c.1241T> C (p.Ile414Thr) single nucleotide variant Uncertain significance rs1554438690 GRCh38 Chromosome 7, 128993832: 128993832
44 TNPO3 NM_012470.3(TNPO3): c.1241T> C (p.Ile414Thr) single nucleotide variant Uncertain significance rs1554438690 GRCh37 Chromosome 7, 128633886: 128633886
45 TNPO3 NM_012470.3(TNPO3): c.70C> T (p.Pro24Ser) single nucleotide variant Uncertain significance rs1408084010 GRCh37 Chromosome 7, 128694755: 128694755
46 TNPO3 NM_012470.3(TNPO3): c.70C> T (p.Pro24Ser) single nucleotide variant Uncertain significance rs1408084010 GRCh38 Chromosome 7, 129054701: 129054701
47 TNPO3 NM_012470.3(TNPO3): c.975G> C (p.Glu325Asp) single nucleotide variant Uncertain significance rs1415790123 GRCh37 Chromosome 7, 128640519: 128640519
48 TNPO3 NM_012470.3(TNPO3): c.975G> C (p.Glu325Asp) single nucleotide variant Uncertain significance rs1415790123 GRCh38 Chromosome 7, 129000465: 129000465
49 TNPO3 NM_012470.3(TNPO3): c.1521G> T (p.Met507Ile) single nucleotide variant Uncertain significance rs1554437833 GRCh37 Chromosome 7, 128626952: 128626952
50 TNPO3 NM_012470.3(TNPO3): c.1521G> T (p.Met507Ile) single nucleotide variant Uncertain significance rs1554437833 GRCh38 Chromosome 7, 128986898: 128986898

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

Cellular components related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dystrophin-associated glycoprotein complex GO:0016010 9.16 CAV3 SGCB
2 Z disc GO:0030018 9.13 CAV3 DNAJB6 MYOT
3 sarcolemma GO:0042383 8.8 CAV3 MYOT SGCB

Biological processes related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.16 CAV3 MYOT
2 muscle organ development GO:0007517 8.96 CAV3 SGCB
3 cardiac muscle cell development GO:0055013 8.62 CAV3 SGCB

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

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