LGMDR12
MCID: MSC181
MIFTS: 35

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 (LGMDR12)

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 57 74
Muscular Dystrophy, Limb-Girdle, Type 2l 57 53 74 13
Lgmd2l 57 53 59 74
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 53 59
Limb-Girdle Muscular Dystrophy, Type 2l 29 6
Lgmdr12 57 74
Muscular Dystrophy, Limb-Girdle, Type 2l; Lgmd2l 57
Dystrophy, Muscular, Limb-Girdle, Type 2l 40
Limb-Girdle Muscular Dystrophy Type 2l 53
Limb-Girdle Muscular Dystrophy 2l 74

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive limb-girdle muscular dystrophy type 2l
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
intrafamilial variability
range of onset 11 to 50 years
patients may become wheelchair-bound after about 12 years
allelic disorder to miyoshi muscular dystrophy 3 (mmd3, )


HPO:

32
muscular dystrophy, limb-girdle, autosomal recessive 12:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

MeSH 44 D049288
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 73 C1969785
Orphanet 59 ORPHA206549
MedGen 42 C1969785

Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

UniProtKB/Swiss-Prot : 74 Muscular dystrophy, limb-girdle, autosomal recessive 12: An autosomal recessive degenerative myopathy characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12, also known as muscular dystrophy, limb-girdle, type 2l, is related to autosomal recessive limb-girdle muscular dystrophy type 2l and bethlem myopathy 1, and has symptoms including myalgia An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 is ANO5 (Anoctamin 5). Affiliated tissues include skeletal muscle and bone, and related phenotypes are elevated serum creatine kinase and facial palsy

More information from OMIM: 611307 PS253600

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

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

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2l 11.9
2 bethlem myopathy 1 10.4
3 miyoshi muscular dystrophy 10.4
4 myofibrillar myopathy 10.4
5 neuromuscular disease 10.4
6 progressive muscular dystrophy 10.4
7 gnathodiaphyseal dysplasia 10.3
8 miyoshi muscular dystrophy 1 10.3
9 miyoshi muscular dystrophy 3 10.3
10 myopathy 10.3
11 muscular dystrophy 10.3
12 limb-girdle muscular dystrophy 10.3
13 muscular dystrophy, limb-girdle, autosomal recessive 2 10.1
14 ano5 muscle disease 10.1

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12:



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12:

32 59 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elevated serum creatine kinase 32 frequent (33%) HP:0003236
2 facial palsy 59 32 Occasional (29-5%) HP:0010628
3 myalgia 59 32 Very frequent (99-80%) HP:0003326
4 emg: myopathic abnormalities 59 32 Frequent (79-30%) HP:0003458
5 calf muscle hypertrophy 59 32 Occasional (29-5%) HP:0008981
6 flexion contracture 59 Occasional (29-5%)
7 elevated serum creatine phosphokinase 59 Frequent (79-30%)
8 genu recurvatum 59 Frequent (79-30%)
9 cardiomyopathy 59 Occasional (29-5%)
10 limb-girdle muscular dystrophy 59 Very frequent (99-80%)
11 elbow flexion contracture 59 Occasional (29-5%)
12 scapular winging 59 Occasional (29-5%)
13 proximal muscle weakness in lower limbs 59 Very frequent (99-80%)
14 proximal muscle weakness in upper limbs 59 Frequent (79-30%)
15 pelvic girdle muscle weakness 32 HP:0003749
16 proximal muscle weakness 32 HP:0003701
17 wrist flexion contracture 59 Occasional (29-5%)
18 abnormality of muscle fibers 59 Frequent (79-30%)
19 muscular dystrophy 32 HP:0003560
20 increased connective tissue 32 HP:0009025
21 muscle fiber atrophy 59 Frequent (79-30%)
22 increased variability in muscle fiber diameter 59 Frequent (79-30%)
23 distal lower limb muscle weakness 59 Very frequent (99-80%)
24 ankle contracture 59 Occasional (29-5%)
25 exercise-induced myalgia 59 Frequent (79-30%)
26 flexion contracture of finger 59 Occasional (29-5%)
27 muscle fiber splitting 59 Frequent (79-30%)
28 internally nucleated skeletal muscle fibers 59 Frequent (79-30%)
29 myoglobinuria 59 Occasional (29-5%)
30 increased endomysial connective tissue 59 Frequent (79-30%)
31 lower limb amyotrophy 59 Frequent (79-30%)
32 quadriceps muscle atrophy 59 Frequent (79-30%)
33 hamstring contractures 59 Occasional (29-5%)
34 abnormality of the calf musculature 59 Frequent (79-30%)
35 emg: neuropathic changes 59 Frequent (79-30%)
36 shoulder girdle muscle weakness 32 HP:0003547
37 pelvic girdle muscle atrophy 59 Frequent (79-30%)
38 upper limb amyotrophy 59 Occasional (29-5%)
39 emg: axonal abnormality 59 Frequent (79-30%)
40 emg: myotonic runs 59 Frequent (79-30%)
41 fatty replacement of skeletal muscle 59 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
myalgia
proximal muscle weakness
shoulder girdle muscle weakness
emg shows myopathic changes
skeletal muscle biopsy shows dystrophic changes
more
Head And Neck Face:
mild facial weakness (less common)

Laboratory Abnormalities:
normal or increased serum creatine kinase

Clinical features from OMIM:

611307

UMLS symptoms related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12:


myalgia

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Importance of Carrier Status of Recessive Gene Mutations in Myopathy Active, not recruiting NCT02897921

Search NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2l 29 ANO5

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12:

41
Skeletal Muscle, Bone

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12:

(show all 39)
# Title Authors PMID Year
1
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. 38 8 71
20096397 2010
2
Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. 8 71
22402862 2012
3
A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. 8 71
17008331 2007
4
ANO5 Muscle Disease 38 71
23193613 2012
5
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 8
30055862 2018
6
Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect. 71
17132147 2007
7
Genetic heterogeneity in Miyoshi-type distal muscular dystrophy. 71
9673985 1998
8
Quadriceps myopathy--entity or syndrome? 8
4834543 1974
9
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients. 38
30919934 2019
10
ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure. 38
31395899 2019
11
Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells. 38
31341644 2019
12
Anoctamin 5/TMEM16E facilitates muscle precursor cell fusion. 38
30257928 2018
13
First familial limb-girdle muscular dystrophy 2L in China: Clinical, imaging, pathological, and genetic features. 38
30235762 2018
14
Development of muscular dystrophy in a CRISPR-engineered mutant rabbit model with frame-disrupting ANO5 mutations. 38
29789544 2018
15
A novel ANO5 splicing variant in a LGMD2L patient leads to production of a truncated aggregation-prone Ano5 peptide. 38
29665321 2018
16
A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties. 38
28214267 2017
17
Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy. 38
26886200 2016
18
Muscle exercise in limb girdle muscular dystrophies: pitfall and advantages. 38
26155063 2015
19
Clinical and genetic features of anoctaminopathy in Saudi Arabia. 38
25864073 2015
20
Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy. 38
26693275 2015
21
Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies. 38
25176504 2014
22
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. 38
25135358 2014
23
Aerobic training in patients with anoctamin 5 myopathy and hyperckemia. 38
24639367 2014
24
The significance of pathological spontaneous activity in various myopathies. 38
24370491 2014
25
Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy. 38
24843231 2014
26
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 38
24843229 2014
27
Eosinophils in hereditary and inflammatory myopathies. 38
24803842 2013
28
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. 38
23606453 2013
29
ANO5 mutations in the Dutch limb girdle muscular dystrophy population. 38
23607914 2013
30
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients. 38
22742934 2012
31
LGMD2L with bone affection: overlapping phenotype of dominant and recessive ANO5-induced disease. 38
23055322 2012
32
Muscle MRI findings in limb girdle muscular dystrophy type 2L. 38
22980763 2012
33
Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies. 38
23035061 2012
34
Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy. 38
22499103 2012
35
[Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings]. 38
21739273 2011
36
Other limb-girdle muscular dystrophies. 38
21496628 2011
37
[Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies]. 38
18975603 2008
38
Muscular dystrophies due to glycosylation defects. 38
19019316 2008
39
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. 38
17044012 2006

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12:

6 (show top 50) (show all 156)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ANO5 NM_213599.2(ANO5): c.299del (p.Arg100fs) deletion Pathogenic rs1064793358 11:22247534-22247534 11:22225988-22225988
2 ANO5 NM_213599.2(ANO5): c.1409T> G (p.Met470Arg) single nucleotide variant Pathogenic rs1403946332 11:22281066-22281066 11:22259520-22259520
3 ANO5 NM_213599.2(ANO5): c.813C> G (p.Tyr271Ter) single nucleotide variant Pathogenic rs1380525804 11:22261165-22261165 11:22239619-22239619
4 ANO5 NM_213599.2(ANO5): c.412G> T (p.Glu138Ter) single nucleotide variant Pathogenic rs1554924356 11:22248896-22248896 11:22227350-22227350
5 ANO5 NM_213599.2(ANO5): c.148C> T (p.Arg50Ter) single nucleotide variant Pathogenic rs1168346560 11:22239801-22239801 11:22218255-22218255
6 ANO5 NM_213599.2(ANO5): c.220C> T (p.Arg74Ter) single nucleotide variant Pathogenic rs749645231 11:22242682-22242682 11:22221136-22221136
7 ANO5 NM_213599.2(ANO5): c.2272C> T (p.Arg758Cys) single nucleotide variant Pathogenic rs137854529 11:22296151-22296151 11:22274605-22274605
8 ANO5 NM_213599.2(ANO5): c.1407+5G> A single nucleotide variant Pathogenic rs281865464 11:22279305-22279305 11:22257759-22257759
9 ANO5 NM_213599.2(ANO5): c.2307_2308CA[2] (p.Gln771fs) short repeat Pathogenic rs137854528 11:22296190-22296191 11:22274644-22274645
10 ANO5 ANO5, IVS14DS, G-A, +5 single nucleotide variant Pathogenic
11 ANO5 NM_213599.2(ANO5): c.41-1G> A single nucleotide variant Pathogenic rs398124625 11:22225349-22225349 11:22203803-22203803
12 ANO5 NM_213599.2(ANO5): c.989dup (p.Leu330fs) duplication Pathogenic rs398124626 11:22271893-22271893 11:22250347-22250347
13 ANO5 NM_213599.2(ANO5): c.1295C> G (p.Ala432Gly) single nucleotide variant Pathogenic rs137854524 11:22277031-22277031 11:22255485-22255485
14 ANO5 NM_213599.2(ANO5): c.2018A> G (p.Tyr673Cys) single nucleotide variant Pathogenic rs137854527 11:22291977-22291977 11:22270431-22270431
15 ANO5 NM_213599.2(ANO5): c.1520del (p.Phe507fs) deletion Pathogenic rs794727158 11:22281177-22281177 11:22259631-22259631
16 ANO5 NM_213599.2(ANO5): c.1898+1G> A single nucleotide variant Pathogenic rs142027093 11:22284590-22284590 11:22263044-22263044
17 ANO5 NM_213599.2(ANO5): c.304_308del (p.Lys102fs) deletion Pathogenic rs776859202 11:22247539-22247543 11:22225993-22225997
18 ANO5 NM_213599.2(ANO5): c.1210C> T (p.Arg404Ter) single nucleotide variant Pathogenic rs566415362 11:22276946-22276946 11:22255400-22255400
19 ANO5 NM_213599.2(ANO5): c.2004del (p.Leu669fs) deletion Pathogenic rs886043172 11:22291963-22291963 11:22270417-22270417
20 ANO5 NM_213599.2(ANO5): c.1627dup (p.Met543fs) duplication Pathogenic rs281865480 11:22281284-22281284 11:22259738-22259738
21 ANO5 NM_213599.2(ANO5): c.1737dup (p.Gly580fs) duplication Pathogenic 11:22283781-22283781 11:22262235-22262235
22 ANO5 NM_213599.2(ANO5): c.1158del (p.Phe386fs) deletion Pathogenic 11:22272535-22272535 11:22250989-22250989
23 ANO5 NM_213599.2(ANO5): c.775A> T (p.Lys259Ter) single nucleotide variant Pathogenic 11:22261127-22261127 11:22239581-22239581
24 ANO5 NM_213599.2(ANO5): c.873_876del (p.Ile292fs) deletion Pathogenic 11:22261223-22261226 11:22239679-22239682
25 ANO5 NM_213599.2(ANO5): c.139-1del deletion Pathogenic/Likely pathogenic rs868484837 11:22239791-22239791 11:22218245-22218245
26 ANO5 NM_213599.2(ANO5): c.762+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs372221490 11:22257823-22257823 11:22236277-22236277
27 ANO5 NM_213599.2(ANO5): c.1213C> T (p.Gln405Ter) single nucleotide variant Pathogenic/Likely pathogenic rs368970223 11:22276949-22276949 11:22255403-22255403
28 ANO5 NM_213599.2(ANO5): c.1639C> T (p.Arg547Ter) single nucleotide variant Pathogenic/Likely pathogenic rs747719953 11:22283683-22283683 11:22262137-22262137
29 ANO5 NM_213599.2(ANO5): c.1733T> C (p.Phe578Ser) single nucleotide variant Pathogenic/Likely pathogenic rs137854526 11:22283777-22283777 11:22262231-22262231
30 ANO5 NM_213599.2(ANO5): c.191dup (p.Asn64fs) duplication Pathogenic/Likely pathogenic rs137854521 11:22242653-22242653 11:22221107-22221107
31 ANO5 NM_213599.2(ANO5): c.692G> T (p.Gly231Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854523 11:22257752-22257752 11:22236206-22236206
32 ANO5 NM_213599.2(ANO5): c.1767C> A (p.Tyr589Ter) single nucleotide variant Pathogenic/Likely pathogenic rs188150039 11:22283811-22283811 11:22262265-22262265
33 ANO5 NM_213599.2(ANO5): c.1088G> A (p.Trp363Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1554929301 11:22272361-22272361 11:22250815-22250815
34 ANO5 NM_213599.2(ANO5): c.1120-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs561719071 11:22272496-22272496 11:22250950-22250950
35 ANO5 NM_213599.2(ANO5): c.649-2A> G single nucleotide variant Likely pathogenic rs773736505 11:22257707-22257707 11:22236161-22236161
36 ANO5 NM_213599.2(ANO5): c.1261C> T (p.Gln421Ter) single nucleotide variant Likely pathogenic rs1554930314 11:22276997-22276997 11:22255451-22255451
37 ANO5 NM_213599.2(ANO5): c.352del (p.Glu118fs) deletion Likely pathogenic rs878854367 11:22247587-22247587 11:22226041-22226041
38 ANO5 NC_000011.9: g.(?_22294310)_(22297765_?)del deletion Likely pathogenic 11:22294310-22297765 11:22272764-22276219
39 ANO5 NM_213599.2(ANO5): c.295-1G> A single nucleotide variant Likely pathogenic 11:22247529-22247529 11:22225983-22225983
40 ANO5 NC_000011.9: g.(?_22239792)_(22242756_?)del deletion Likely pathogenic 11:22239792-22242756 11:22218246-22221210
41 ANO5 NM_213599.2(ANO5): c.1962A> G (p.Arg654=) single nucleotide variant Conflicting interpretations of pathogenicity rs1057521970 11:22291921-22291921 11:22270375-22270375
42 ANO5 NM_213599.2(ANO5): c.720G> T (p.Leu240=) single nucleotide variant Conflicting interpretations of pathogenicity rs147121216 11:22257780-22257780 11:22236234-22236234
43 ANO5 NM_213599.2(ANO5): c.2521-1del deletion Conflicting interpretations of pathogenicity rs752982710 11:22301089-22301089 11:22279543-22279543
44 ANO5 NM_213599.2(ANO5): c.2498T> A (p.Met833Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs142073798 11:22297723-22297723 11:22276177-22276177
45 ANO5 NM_213599.2(ANO5): c.369G> A (p.Ser123=) single nucleotide variant Conflicting interpretations of pathogenicity rs199888040 11:22248853-22248853 11:22227307-22227307
46 ANO5 NM_213599.2(ANO5): c.1538C> T (p.Thr513Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs281865467 11:22281195-22281195 11:22259649-22259649
47 ANO5 NM_213599.2(ANO5): c.879-7_879-6del deletion Conflicting interpretations of pathogenicity rs143977836 11:22271776-22271777 11:22250230-22250231
48 ANO5 NM_213599.2(ANO5): c.1031C> G (p.Pro344Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs541372136 11:22272304-22272304 11:22250758-22250758
49 ANO5 NM_213599.2(ANO5): c.1029C> T (p.Asp343=) single nucleotide variant Conflicting interpretations of pathogenicity rs78899595 11:22272302-22272302 11:22250756-22250756
50 ANO5 NM_213599.2(ANO5): c.2259A> G (p.Ser753=) single nucleotide variant Conflicting interpretations of pathogenicity rs61746201 11:22296138-22296138 11:22274592-22274592

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....